Genetics 50q

8/19/2019 Genetics 50q

1/62

USMLE WORLD STEP 1 GENETICS

Question List

Genetics Q No: 1 Pulmonology Genetics Q No: 26 Musculoskeletal

Genetics Q No: 2 Endocrinology Genetics Q No: 27 Dermatology

Genetics Q No: 3 Renal Genetics Q No: 28 Hematology

Genetics Q No: 4 Reproductive system Genetics Q No: 29 Gastrointestinal system

Genetics Q No: 5 Pulmonology Genetics Q No: 30 Pulmonology

Genetics Q No: 6 Head and neck Genetics Q No: 31 Dermatology

Genetics Q No: 7 Head and neck Genetics Q No: 32 Endocrinology

Genetics Q No: 8 Neurology Genetics Q No: 33 Neurology

Genetics Q No: 9 Hematology Genetics Q No: 34 Neurology

Genetics Q No: 10 Endocrinology Genetics Q No: 35 Musculoskeletal


Genetics Q No: 12 Head and neck Genetics Q No: 37 Neurology

Genetics Q No: 13 Cardiology Genetics Q No: 38 Gastrointestinal system

Genetics Q No: 14 Renal Genetics Q No: 39 Neurology

Genetics Q No: 15 Cardiology Genetics Q No: 40 Neurology

Genetics Q No: 16 Pulmonology Genetics Q No: 41 Cardiology

Genetics Q No: 17 Head and neck Genetics Q No: 42 Hepatobiliary system

Genetics Q No: 18 Cardiology Genetics Q No: 43 Hematology

Genetics Q No: 19 Head and neck Genetics Q No: 44 Hematology

Genetics Q No: 20 Reproductive system Genetics Q No: 45 Reproductive system

Genetics Q No: 21 Oncology Genetics Q No: 46 Neurology


Genetics Q No: 23 Head and neck Genetics Q No: 48 Head and neck

Genetics Q No: 24 Musculoskeletal Genetics Q No: 49 Head and neck

Genetics Q No: 25 Genitourinary Genetics Q No: 50 Hematology

161


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A.

Phenylketonuria. Si!kle !ell ane"iaC. Mar#an $yn%ro"eD. Cy$ti! #i&ro$i$E. 're%eri!k($ ata)ia

Explanation:*'+,- i$ the "o$t !o""on CETR ene "utation in /atient$ 0ith !y$ti! #i&ro$i$ CE2.Thi$ "utation %elete$ the three nu!leoti%e$ that !o%e #or /henylalanine at a"inoa!i% /o$ition +,-. *'+,- i$ the "utation re$/on$i&le in a//ro)i"ately 3,4 o# C'!a$e$ %iano$e% 0orl%0i%e.The CETR ene !o%e$ #or the !y$ti! #i&ro$i$ tran$"e"&rane reulator CETR2/rotein5 an interal "e"&rane /rotein. The *'+,- "utation !au$e$ a&nor"al /rotein

#ol%in an% #ailure o# ly!o$ylation. The CRTR /rotein i$ %era%e% &e#ore it rea!he$the !ell $ur#a!e5 !au$in it$ !o"/lete a&$en!e #ro" the a/i!al "e"&rane o# e)o!rine%u!tal e/ithelial !ell$. The "ole!ular te!hni6ue %e$!ri&e% in thi$ 6ue$tion !oul% hel/C' /atient$ &y re$torin C'TR /rotein$ to the "e"&rane.Choi!e A2 Phenylketonuria re$ult$ #ro" "utation$ in the he/ato!yte intra!ellularen7y"e /henylalanine hy%ro)yla$e. The re$ult i$ /rotein "i$#ol%in. Thi$ en7y"e i$not nor"ally tran$/orte% to the !ell $ur#a!e.Choi!e 2 Si!kle !ell ane"ia re$ult$ #ro" "utation$ in the 89lo&in ene o#he"olo&in S. Thi$ /rotein i$ not a tran$"e"&rane /rotein.Choi!e C2 Mar#an $yn%ro"e re$ult$ #ro" an inherite% %e#e!t in the e)tra!ellularly!o/rotein5 #i&rillin91. 'i&rillin91 i$ not an interal tran$"e"&rane /rotein. Thea&nor"al #i&rillin91 "ono"er$ %i$ru/t#i&rillin91 /oly"eri7ation an% /re:ent thenor"al #or"ation o# "i!ro#i&ril$ in inter$titial !onne!ti:e ti$$ue.Choi!e E2 In 're%eri!k($ ata)ia5 the #rata)in ene5 0hi!h !o%e$ #or a "ito!hon%rial/rotein i"/ortant in re$/iratory #un!tion an% iron ho"eo$ta$i$5 i$ "utate%. ;ere5 aGAA re/eat %i$ru/t$ tran$!ri/tion5 not /o$t9tran$lational /ro!e$$in.

E%u!ational O&


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A.Short

$tature5 &roa% !he$t5 a"enorrhea. Tall $tature5 yne!o"a$tia5 in#ertilityC. Ma!roor!hi%i$"5 lare 3 ??@ karyoty/e i$ %iano$ti! o# line#elter $yn%ro"e. The e)tra $e)!hro"o$o"e i$ a!6uire% %ue to B"eioti! non%i$


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A. rain ha"arto"a$ an% a$h9lea# $kin /at!he$. Multi/le /eri/heral neuro #i&ro"a$ an% !a# au lait $kin $/ot$C. ilateral a!ou$ti! neuro"a$D. Cere&ellar he"anio"a$ an% li:er !y$t$E. Ca/illary anio"a$ o# the #a!e an% !horoi%'. Multi/le telanie!ta$ia$ o# the $kin an% "u!o$a

Explanation:

Renal anio"yoli/o"a i$ a &enin tu"or !o"/o$e% o# &loo% :e$$el$5 $"ooth"u$!le5 an% #at anio9"yo9li/o"a2. The$e tu"or$ !an &e %iano$e% 0ith ana&%o"inal CT $!an5 a$ the %en$ity o# #at i$ le$$ than that o# 0ater.Anio"yoli/o"a$ are a$$o!iate% 0ith tu&erou$ $!lero$i$. In /atient$ 0ith &ilateralrenal anio"yoli/o"a$5 the in!i%en!e o# tu&erou$ $!lero$i$ i$ -,9J,4. Tu&erou$

$!lero$i$ i$ an auto$o"al %o"inant !on%ition !hara!teri7e% &y !orti!al tu&er$ an%$u&e/en%y"al ha"arto"a$ in the &rain5 0ith !on$e6uent $ei7ure$ an% "entalretar%ation. Car%ia! rha&%o"yo"a$5 #a!ial anio#i&ro"a$5 an% leat9$ha/e% /at!he$o# $kin la!kin /i"ent a$h lea# /at!he$2 !an o!!ur in thi$ !on%ition a$ 0ell.

Choi!e 2 Neuro#i&ro"ato$i$ Ty/e 1i$ an auto$o"al %o"inant %i$or%er!hara!teri7e% &y neuro#i&ro"a$/le)i#or" an% $olitary25 o/ti!lio"a$5 /i"ente% no%ule$ o# theiri$ Li$!h no%ule$25 an% !utaneou$hy/er/i"ente% "a!ule$ !a# aulait $/ot$2.

Choi!e C2 Neuro#i&ro"ato$i$ Ty/e i$ an auto$o"al %o"inant %i$or%er "arke% &y&ilateral a!ou$ti! neuro"a$. The$e /atient$ "ay al$o %e:elo/ "ulti/le "eninio"a$5lio"a$5 an% e/en%y"o"a$ o# the $/inal !or%.

Choi!e D2 Cere&ellar he"anio"a$ an% li:er !y$t$ are $een in on ;i//el9Lin%auDi$ea$e5 an auto$o"al %o"inant !on%ition. The$e /atient$ are at hih ri$k #or&ilateral renal !ell !ar!ino"a$.Choi!e E2 Sture9We&er $yn%ro"e SS2 i$ a rare !onenital :a$!ular %i$or%er!hara!teri7e% &y a #a!ial /ort90ine $tain an% a le/to"enineal anio"a.Choi!e '2 Patient$ 0ith here%itary he"orrhai! telanie!ta$ia al$o !alle% O$ler9Ren%u9We&er $yn%ro"e2 %e:elo/ "ulti/le telanie!ta$ia$ o# the $kin an% "u!o$a.The ty/i!al /re$entation i$ re!urrent e/i$ta)i$ or a$trointe$tinal &lee%in "elena2.

E%u!ational O&


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A. Mitoti! error in early %e:elo/"ent. Trinu!leoti%e re/eat e)/an$ionC. Uni /arental %i$o"yD. alan!e% re!i/ro!al tran$lo!ationE. 'ra"e$hi#t "utation

Explanation:

Thi$ /atient a//ear$ to ha:e Turner $yn%ro"e5 a !on%ition that o!!ur$ ina//ro)i"ately 1 in ,,, li:e&orn #e"ale$ an% in 1+4 o# all $/ontaneou$ a&ortion$2.Clini!al "ani#e$tation$ o# Turner $yn%ro"e in!lu%e the a&nor"alitie$ li$te% &elo0.1. Phenoty/i! a&nor"alitie$= Short $tature5 0e&&e% ne!k5 hih /alate5 lo0 /o$teriorhair line5 B$hiel% !he$t5 0i%ely9$/a!e% ni//le$5 $hort #ourth "eta!ar/al

. Uroenital a&nor"alitie$= /ri"a a"enorrhea5 un%er%e:elo/e% B$treak o:arie$5%e!rea$e% e$troen an% in!rea$e% ona%otro/in$5 a&$ent $e!on%ary $e)!hara!teri$ti!$5 hor$e$hoe ki%neyH. Car%ia! a&nor"alitie$= !oar!tation o# the aorta5 &i!u$/i% aorti! :al:e>. Ly"/hati! a&nor"alitie$= e%e"a o# e)tre"itie$ in neonate$5 !y$ti! hyro"a$Turner $yn%ro"e i$ eneti!ally heteroeneou$. The !la$$i! :ariant o# !o"/lete"ono$o"y >+5 ?O2 o!!ur$ in a "inority o# Turner $yn%ro"e /atient$5 0ith "o$t%e"on$tratin "o$ai!i$". In the "o$ai! /o/ulation5 one eneti! line !ontain$ !ell$0ith a nor"al nu"&er o# !hro"o$o"e$ > ??25 0hile the other eneti! line !ontain$!ell$ that are "ono$o"i! >+5 ?O2. oth line$ oriinate #ro" a $inle 7yote. Whiletri$o"ie$ an% non"o$ai! "ono$o"ie$ ty/i!ally re$ult #ro" "eioti! non%i$ ??2 0ith /artial%eletion o# one or "ore ar"$ o# the ? !hro"o$o"e. Thi$ %e#e!t i$ ter"e% B/artial"ono$o"y an% i$ a$$o!iate% 0ith the $tan%ar% !lini!al "ani#e$tation$ o# Turner$yn%ro"e.Choi!e 2 Trinu!leoti%e re/eat e)/an$ion i$ re$/on$i&le #or nu"erou$ %i$ea$e$5in!lu%in #raile ? $yn%ro"e CGG re/eat$25 "yotoni! %y$tro/hy CTG re/eat$25 an%;untinton %i$ea$e CAG re/eat$2.Choi!e C2 Uni/arental %i$o"y o!!ur$ 0hen an in%i:i%ual inherit$ t0o !o/ie$ o# a!hro"o$o"e #ro" one /arent an% no !o/ie$ o# the !hro"o$o"e #ro" the other

/arent. Pra%er9Willi $yn%ro"e o!!ur$ in tho$e 0ho ha:e t0o "aternal !o/ie$ o#!hro"o$o"e 1+ "aternal uni/arental %i$o"y2 an% Anel"an $yn%ro"e o!!ur$ intho$e 0ho ha:e t0o /aternal !o/ie$ o# !hro"o$o"e 1+ /aternal uni/arental%i$o"y2. Uni/arental %i$o"y i$ not a$$o!iate% 0ith Turner $yn%ro"e.Choi!e D2 In &alan!e% #or"5 a re!i/ro!al ' ro&ert$onian2 tran$lo!ation i$ !lini!ally$ilent &e!au$e there i$ no e)!e$$ or $hortae o# eneti! "aterial. An un&alan!e%tri$o"y 1 in 0hi!h one !hro"o$o"e 1> !ontain$ the lon ar"$ o# &oth!hro"o$o"e$ 1> an% 12 i$ re$/on$i&le #or H9>4 o# !a$e$ o# Do0n $yn%ro"e.Choi!e E2 A #ra"e$hi#t "utation i$ a eneti! "utation in 0hi!h a nu"&er o#nu!leoti%e$ not %i:i$i&le &y three i$ in$erte% or re"o:e% #ro" the DNA $e6uen!e. A$a re$ult5 the rea%in #ra"e i$ %i$ru/te% an% the /ro%u!t o# tran$lation i$ !hane%.'a"ilial hy/er!hole$terole"ia ha$ &een a$$o!iate% 0ith #ra"e$hi#t "utation$.

165

Q NO 4: A 139year9ol% Cau!a$ian #e"ale ha$ ne:er ha% "en$trual &lee%in. She i$1>- !" tall5 0eih$ >H k J>.3 l&25 an% ha$ /oorly %e:elo/e% $e!on%ary $e)ual!hara!teri$ti!$. On /el:i! ultra$oun%5 her o:arie$ are $"all an% elonate%. Whi!h o# the #ollo0in i$ the "o$t likely !au$e o# thi$ /atient($ !on%itionK


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E%u!ational O&+5 ?O !o"/lete "ono$o"y25>+?,F>?? "o$ai!i$"25 or >?? 0ith /artial %eletion o# one ? !hro"o$o"e2.Mo$ai!i$" a//ear$ to a!!ount #or a "a


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A. 1F1. 1F-C. 1F>D. 1FHE. FH'. HF>

Explanation:

Cy$ti! #i&ro$i$ re$ult$ #ro" an auto$o"al re!e$$i:e %e#e!t in the !y$ti! #i&ro$i$tran$"e"&rane !on%u!tan!e reulator C'TR2 ene on !hro"o$o"e 3. 'ro" the/e%iree a&o:e5 0e are a$ke% to !al!ulate the /ro&a&ility that a #uture !hil% 0ill

inherit a "utant allele #ro" ea!h /arent. Sin!e the #ather i$ ho"o7you$ #or the"utant CETR allele5 /1 the /ro&a&ility that the #ather 0ill tran$"it the "utantallele2 1. e!au$e the "other ha$ an a##e!te% $i&lin 0e kno0 that $he "u$t ha:eha% t0o hetero7you$ !arrier /arent$. Thu$5 the /ro&a&ility5 /5 that the "other i$ a!arrier FH 1a$ i$ e:i%ent #ro" the %iara" &elo0=

I# the "other i$ a !arrier5 the /ro&a&ility5 /H5 that $he 0ill tran$"it the "utant alleleto the !hil% i$ 1F. 'inally the /ro&a&ility that the !hil% 0ill inherit t0o "utantallele$5 i.e. the /ro&a&ility o# inheritin a "utant allele #ro" the #ather an% #ro" the"other5 i$ /1 ) / ) /H 1FH.

E%u!ational O&


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A. Tri$o"y 1. Tri$o"y 1-C. Tri$o"y 1HD. >35 ???E. >35 ??@'. >35 ?@@

Explanation:

Tri$o"y 1H Patau $yn%ro"e2 i$ the thir% "o$t !o""on auto$o"al tri$o"y i%enti#ie%in li:e&orn in#ant$5 an% the "o$t $e:ere. A##e!te% !hil%ren ty/i!ally %ie 0ithin the#ir$t 0eek o# li#e5 0ith only +4 $ur:i:in the #ir$t $i) "onth$. In the "a


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Choi!e '2The >35 ?@@ karyoty/e i$ !hara!teri7e% &y tall $tature5 $e:ere a!ne5 an%"il% %elay$ in &oth "otor an% lanuae %e:elo/"ent. Male ne0&orn$ 0ith thi$karyoty/e are /heno ty/i!ally nor"al 0ith no o&:iou$ %y$"or/hi$".

E%u!ational O&


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A. Cri %u !hat +/92 $yn%ro"e. Do0n($ $yn%ro"eC. Turner($ $yn%ro"eD. A%renoenital $yn%ro"eE. Te$ti!ular #e"ini7ation $yn%ro"e

Explanation:The ne!k "a$$ %e$!ri&e% in the 6ue$tion i$ likely a !y$ti! hyro"a. Cy$ti! hyro"a$are tu"or$ "o$t !o""only lo!ate% on the ne!k e$/e!ially in the /o$terior trianle2that are a//arent at &irth. Cy$ti! hyro"a$ are o#ten $een in in#ant$ 0ith Turner($$yn%ro"e. S0ellin o# the han%$ an% #eet ly"/he%e"a2 i$ another !o""on early"ani#e$tation o# thi$ !on%ition. oth !y$ti! hyro"a$ an% ly"/he%e"a o!!ur %ue toa&nor"alitie$ o# ly"/hati! out#lo0 in Turner($ $yn%ro"e. The $0ellin %e!rea$e$

0ith ae.Ol%er !hil%ren an% a%ult$ 0ith Turner($ $yn%ro"e ha:e a !hara!teri$ti! a//earan!ethat in!lu%e$= 0e&&e% ne!k5 lo0 hairline5 an% $hiel% !he$t5 $hort #ourth "eta!ar/alan% $hort $tature. Pri"ary a"enorrhea i$ the re$ult o# o:arian un%er%e:elo/"ent$treak o:arie$2. Patient$ #ail to %e:elo/ $e!on%ary $e) !hara!teri$ti!$. Aorti!!oar!tation i$ a !ar%io:a$!ular %e#e!t !o""only #oun% in Turner($ $yn%ro"e.Choi!e A2 Patient$ 0ith !ri %u !hat +/92 $yn%ro"e ty/i!ally ha:e a roun% #a!e5 !at9like !ry5 an% "i!ro!e/haly.Choi!e 2 Neonate$ 0ith Do0n($ $yn%ro"e ha:e a !hara!teri$ti! a//earan!e a$ 0ellin!lu%in a #lat #a!e5 o&li6ue /al/e&ral #i$$ure$5 an% e/i!anthal #ol%$. Do0n($$yn%ro"e i$ not a$$o!iate% 0ith ly"/he%e"a or !y$ti! hyro"a$.Choi!e D2 In a%renoenital $yn%ro"e !onenital a%renal hy/er/la$ia25 /atient$ha:e a&nor"al $e)ual %i##erentiation %ue to %e#e!ti:e hor"one $ynthe$i$ in thea%renal lan%$. The "o$t !o""on a%renoenital $yn%ro"e i$ 19 hy%ro)yla$e%e#i!ien!y. Patient$ /re$ent at &irth 0ith a"&iuou$ enitalia #e"ale$ only2 an%$y"/to"$ o# $alt 0a$tin.Choi!e E2 Te$ti!ular #e"ini7ation $yn%ro"e al$o !alle% an%roen in$en$iti:ity$yn%ro"e2 o!!ur$ %ue to a %e#e!t in te$to$terone re!e/tor$. Neonate$ 0ithkaryoty/e > ?@ a//ear to &e /heno ty/i!ally nor"al #e"ale$. There i$ a &lin%9en%e% :ainal /ou!h 0ithout a uteru$.

E%u!ational O&


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A.

In!rea$e% /enetran!e. Pleiotro/yC. Anti!i/ationD. Mo$ai!i$"E. Partial %eletion'. Geno"i! i"/rintin

Explanation:

;untinton %i$ea$e "ani#e$t$ 0ith the tria% o# "o:e"ent %i$or%er !horea25

&eha:ioral a&nor"alitie$ are$$i:ene$$5 a/athy or %e/re$$ion25 an% %e"entia.;untinton %i$ea$e i$ tran$"itte% a$ an auto$o"al %o"inant trait 0ith 1,,4/enetran!e5 "eanin that i# a !hil% inherit$ the a&nor"al ene5 that !hil% 0illine:ita&ly %e:elo/ ;untinton %i$ea$e. Mo$t /atient$ %e:elo/ $y"/to"$ in their>o$or+o$. An earlier ae o# on$et i$ a$$o!iate% 0ith a larer nu"&er o# trinu!leoti%ere/eat$. Durin $/er"atoene$i$5 CAG re/eat$ in the a&nor"al ;D ene ra/i%lyin!rea$e. Thu$5 /atient$ 0ho re!ei:e an a&nor"al ene #ro" their #ather$ ten% to%e:elo/ the %i$ea$e earlier in li#e. The nu"&er o# trinu!leoti%e re/eat$ on ;D enere"ain$ the $a"e %urin "aternal tran$"i$$ion.2 The ten%en!y #or !lini!al$y"/to"$ to 0or$en an%For o!!ur earlier in $u&$e6uent eneration$ i$ !alle%anti!i/ation.Anti!i/ation i$ !o""on in %i$or%er$ a$$o!iate% 0ith trinu!leoti%e re/eat$5 a$ in'raile ? $yn%ro"e5 "yotoni! %y$tro/hy5 an% 'rie%rei!h ata)ia.Choi!e A2 The tran$"i$$ion o# an a&nor"al ene #ro" a /arent to a !hil% %oe$ notal0ay$ !au$e %i$ea$e. 'or e)a"/le 0o"en 0ith RCA9 "utation$ %o not al0ay$%e:elo/ &rea$t !an!er. The likelihoo% that the /ro/ertie$ o# a ene 0ill &e e)/re$$e%i$ !alle% /enetran!e. ;untinton %i$ea$e i$ a %i$or%er 0ith 1,,4 /enetran!e allin%i:i%ual$ 0ho ha:e an a&nor"al ;D ene 0ill %e:elo/ ;untinton %i$ea$e.Choi!e 2 So"eti"e$5 one ene "utation lea%$ to "ulti/le /henoty/i!a&nor"alitie$5 a eneti! /heno"enon na"e% B/leiotro/y. In ;untinton %i$ea$e5/leiotro/y i$ !learly at 0ork &e!au$e the "utation o# one ene ;D2 !au$e$

%y$#un!tion o# &eha:ior5 o# "o:e"ent5 an% o# !onition.Choi!e D2The /re$en!e o# t0o /o/ulation$ o# !ell$ 0ith %i##erent enoty/e$ in one/atient i$ !alle% "o$ai!i$". E)a"/le$ o# "o$ai!i$" in!lu%e "il%er #or"$ o# Turnerenoty/e >??F>+?,25 line#elter >?@F>3??@25 an% Do0n $yn%ro"e$.Choi!e E2 Deletion i$ the lo$$ o# eneti! "aterial. E)a"/le$ o# %eletion areDiGeore $yn%ro"e 6 11 "i!ro %eletion$2 an% !ri9%u9!hat $yn%ro"e +/%eletion2.Choi!e '2 Geno"i! i"/rintin i$ a $ele!ti:e ina!ti:ation o# the ene$ o# either"aternal or /aternal oriin5 !au$in a /heno"enon $o"eti"e$ !alle% B/arent9o#9oriin ene e)/re$$ion. Geno"i! i"/rintin o!!ur$ in Pra%er9Willi an% Anel"an$yn%ro"e$. oth !on%ition$ in:ol:e %eletion o# the $a"e ene on the $a"e!hro"o$o"e 1+25 &ut ye0 %i##erent !lini!al "ani#e$tation$ o!!ur %e/en%in on theoriin o# the "utation. I# the %eletion !o"e$ #ro" the #ather5 Pra%er9Willi $yn%ro"eo!!ur$a##e!te% !hil%ren $ho0 in$atia&le huner an% thir$t an% e"otional la&ility

171

Q NO 8: A >9year9ol% Cau!a$ian "ale 0ho 0a$ /re:iou$ly %iano$e% 0ith%e/re$$ion i$ no0 e)/erien!in in:oluntary ri"a!in an% $trane"o:e"ent$ o# hi$ ar"$ an% le$. Neuroloi!al e)a"ination $ho0$ nor"al$trenth an% nor"al %ee/ ten%on re#le)e$. No $en$ory %e#i!it$ are note%.The /atient($ ran%#ather %ie% o# a neuroloi!al %i$ea$e at + year$ ol%5an% the /atient($ #ather %ie% o# a $i"ilar %i$ea$e at +-. That thi$ /atientha$ an earlier on $et o# %i$ea$e than either hi$ #ather or ran%#ather i$"o$t likely e)/laine% &y 0hi!h o# the #ollo0inK


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0herea$5 %eletion$ inherite% #ro" the "other re$ult in Anel"an $yn%ro"eal$o!alle% Bha//y /u//et $yn%ro"e &e!au$e !hil%ren e)hi&it


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A. E/i%er"al ro0th #a!tor re!e/tor. Platelet %eri:e% ro0th #a!tor re!e/torC. Retinoi! a!i% re!e/torD. GTP9&in%in /roteinE. Retino&la$to"a ene /ro%u!t

Explanation:A!ute "yeloenou$ leuke"ia AML2 i$ !hara!teri7e% &y #ailure o# i""ature "yeloi%/re!ur$or$ "yelo&la$t$2 to %i##erentiate into "ature ranulo!yte$. It i$ %i:i%e% intoeiht ty/e$5 M, throuh M3. The MH :ariant o# AMLI a!ute /ro"yelo!yti! leuke"ia5i$ a$$o!iate% 0ith the !ytoeneti! a&nor"ality t1+132. ;ere the ene #or retinoi!

a!i% re!e/tor al/ha #ro" !hro"o$o"e 13 i$ tran$#erre% to !hro"o$o"e 1+ in alo!ation a%


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Seru" L; Seru" 'S; Seru" te$to$terone S/er" !ountA. De!rea$e% De!rea$e% De!rea$e% De!rea$e%. Nor"al Nor"al Nor"al NoneC. De!rea$e% Nor"al In!rea$e% De!rea$e%D. In!rea$e% In!rea$e% De!rea$e% De!rea$e%E. Nor"al De!rea$e% Nor"al De!rea$e%

Explanation:

The /atient %e$!ri&e% in thi$ :inette ha$ hy/oona%i$"5 $"all #ir" te$te$5elonate% li"&$5 an% yne!o"a$tia5 'in%in$ hihly $ue$ti:e o# line#elter$yn%ro"e. In line#elter $yn%ro"e5 the $e"ini#erou$ tu&ule$ are /rore$$i:ely%e$troye% an% hyalini7e%5 !au$in the te$te$ to &e $"all an% #ir". Seru" inhi&inle:el$ are %e!rea$e% a$ a re$ult o# the %a"ae to the $e"ini#erou$ tu&ule$. The

inter$titial Ley%i !ell$ are %a"ae% a$ 0ell5 re$ultin in lo0 te$to$terone le:el$ an%ere!tile %y$#un!tion. e!au$e o# the lo0 !ir!ulatin le:el$ o# te$to$terone an% inhi&in5L; an% ES; are ele:ate% lo$$ o# #ee%&a!k inhi&ition2. The hy/oona%i$" !au$e$e/i/hy$eal #u$ion to &e %elaye%5 hen!e the elonate% li"&$. Mo$t /atient$ 0ithline#elter $yn%ro"e are in#ertile.The ty/i!al enoty/e in /atient$ 0ith line#elter $yn%ro"e i$ >3 ??@5 0ith "o$t o#the !lini!al "ani#e$tation$ re$ultin #ro" the e)tra ? !hro"o$o"e. Thi$ enoty/e!an o!!ur 0hen there i$ Bnon9%i$


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A. DNA a!etylation. ;y/er "ethylation o# hi$tone$C. Thy"i%ine %i"eri7ationD. Mutation o# ho"eo%o"ain eneE. Su//re$$ion o# "RNA $ynthe$i$

Explanation:;untinton %i$ea$e i$ an auto$o"al9%o"inant neuro%eenerati:e %i$ea$e 0ith!o"/lete /enetran!e that ha$ &een lo!ali7e% to a reion on the #ourth !hro"o$o"e.It %e:elo/$ %ue to an in!rea$e in the nu"&er o# CAG trinu!leoti%e re/eat$ on the ;Dene that !o%e$ #or the a&nor"al /rotein huntintin. Thi$ a&nor"al ene /ro%u!t

#un!tion$ to %e!rea$e the e)/re$$ion o# other ene$ &y inhi&itin their tran$!ri/tion.Thi$ i$ !alle% tran$!ri/tional re/re$$ion or $ilen!in5 an% /lay$ an i"/ortant role in/athoene$i$ o# ;untinton %i$ea$e. Althouh all !ell$ in the hu"an &o%y ha:e the$a"e eno"e5 they %e:elo/ into %i##erent :ariant$ $/e!i#i! #or e:ery oran an%ti$$ue. Su!h %i##erentiation i$ /o$$i&le %ue to e)/re$$ion o# $o"e ene$ an% B$ilen!in o# other$. Thi$ reulation o# tran$!ri/tion o!!ur$ in /art %ue the /re$en!eo# hi$tone$5 $"all /rotein$ that !o"/le) 0ith DNA to "ake !ertain reion$ o# theeno"e not a!!e$$i&le #or tran$!ri/tion. Methylation o# a"ino a!i% re$i%ue$ inhi$tone$ in!rea$e$ their a&ility to re/re$$ tran$!ri/tion5 an% in ;untinton %i$ea$e$o"e hi$tone #ra"ent$ are hy/er "ethylate% lea%in to in!rea$e% $ilen!in o#!ertain ene$. Re!ent re$ear!h on "ou$e "o%el$ ha$ $ho0n that the anti"eta&olite"ithra"y!in %e!rea$e$ "ethylation o# hi$tone$ an% "ay /ro:e u$e#ul in thetreat"ent o# ;untinton %i$ea$e.Choi!e A2 A!etylation o# hi$tone$ an% DNA 0eaken$ the DNA9hi $tone &on% an%"ake DNA #ra"ent$ a!!e$$i&le #or tran$!ri/tion #a!tor$ an% RNA /oly"era$e$.A!etylation5 there#ore5 enhan!e$ ene tran$!ri/tion 0hile "ethylation %e!rea$e$tran$!ri/tion.Choi!e C2 Thy"i%ine %i"eri7ation i$ one o# the "e!hani$"$ o# DNA %a"aein%u!e% &y U ra%iation.Choi!e$ D an% E2 Mutation o# ho"eo%o"ain ho"eo&o)2 ene$ 0oul% theoreti!ally!au$e alteration$ in the &o%y $tru!ture o# an ani"al or lea% to $/ontaneou$ a&ortion

&y lea%in to a &o%y $tru!ture in!o"/ati&le 0ith li#e. Su//re$$ion o# "RNA $ynthe$i$0oul% lea% to #ailure o# /rotein $ynthe$i$ an% ha$ not &een #oun% to /lay any role in;untinton %i$ea$e.

E%u!ational O&


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A. Tri$o"y 1. Tri$o"y 1-C. Tri$o"y 1HD. >35 ???E. >35 ??@

Explanation:Tri$o"y 1- E%0ar%$ $yn%ro"e2 i$ the $e!on% "o$t !o""on auto$o"al tri$o"yi%enti#ie% in li:e&orn in#ant$5 0ith tri$o"y 1 the "o$t !o""on. Ninety /er!ent o#E%0ar%$($ $yn%ro"e !a$e$ re$ult #ro" non%i$35 1-2.

The !lini!al "ani#e$tation$ o# E%0ar%$($ $yn%ro"e in!lu%e the a&nor"alitie$!ateori7e% &y $y$te" &elo0.1. 'a!e= "i!ronathia5 "i!ro$to"ia5 eye %e#e!t$ "i!ro/hthal"ia5 !atara!t$!olo&o"a25 lo09$et an% "al#or"e% ear$5 /ro"inent o!!i/ut. CNS= "i!ro!e/haly5 neural tu&e %e#e!t$ e5 "enino!ele5 anen!e/haly25holo/ro$en!e/haly5 Arnol%9Chiari "al#or"ation5 $e:ere "ental retar%ation5 %elaye%/$y!ho"otor %e:elo/"entH. Mu$!ulo$keletal= !len!he% han%$ 0ith o:erla//in #iner$ in%e) #iner o:erri%e$the "i%%le #iner an% #i#th #iner o:erri%e$ the #ourth #iner25 ro!ker9&otto" #eet5$hort $ternu"5 an% hy/ertonia>. Car%ia!= :entri!ular $e/tal %e#e!t5 /atent %u!t arterio$u$+. Ga$trointe$tinal= Me!kel($ %i:erti!ulu"5 "alrotationTri$o"y 1- !an &e %ete!te% /renatally 0ith the u$e o# ultra$oun%. Sue$ti:e#in%in$ in!lu%e intrauterine ro0th re$tri!tion an% /olyhy%ra"nio$5 e$/e!ially in a#etu$ 0ith a&nor"al han% arrane"ent.Choi!e A2 The #etu$ 0ith Do0n $yn%ro"e tri$o"y 12 0ill ty/i!ally ha:e a #lat #a!e5a&nor"al ear$5 $lante% /al/e&ral #i$$ure$5 re%un%ant $kin at na/e o# ne!k5hy/otonia5 /el:i! %y$/la$ia5 an% $inle tran$:er$e /al"ar !rea$e.Choi!e C2 Unlike neonate$ 0ith E%0ar%$ $yn%ro"e5 neonate$ 0ith tri$o"y 1HPatau $yn%ro"e2 ha:e !le#t li/ an% /alate5 /oly%a!tyly an% o"/halo!ele. Patau$yn%ro"e i$ not a$$o!iate% 0ith lo09$et ear$ an% o:erla//in #iner$.

Choi!e D2 The >35 ??? karyoty/e i$ ty/i!ally !lini!ally $ilent. So"e a##e!te% 0o"en"ay ha:e $lihtly %e!rea$e% IQ $!ore$. 'e"ale ne0&orn$ 0ith thi$ karyoty/e are/henoty/i!ally nor"al 0ith no o&:iou$ %y$"or/hi$".Choi!e E2 The >35 ??@ line#elter $yn%ro"e2 "ay &e a$$o!iate% 0ith "il% "entalretar%ation or nor"al intellien!e. The ty/i!al /atient i$ a tall "ale a%ult 0ithyne!o"a$tia5 $"all te$te$5 an% in#ertility. Male ne0&orn$ 0ith thi$ karyoty/e are/henoty/i!ally nor"al 0ith no o&:iou$ %y$"or/hi$". The !lini!al #in%in$ %o not&e!o"e a//arent until a%ole$!en!e or a%ulthoo%.E%u!ational O&


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A. Meioti! non9%i$


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A. R. ;LC. NE91D. WT91E. RCA91

Explanation:Gi:en the /re$entation o# he"aturia /lu$ renal "a$$5 the /atient "o$t likely ha$renal !ell !ar!ino"a.The "a


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A. artaener($ $yn%ro"e. Tu&erou$ $!lero$i$C. DiGeore $yn%ro"eD. 'rie%rei!h($ ata)iaE. Mar#an $yn%ro"e'. Do0n $yn%ro"eG. Turner($ $yn%ro"e

Explanation:

Deletion$ in:ol:in the lon ar" o# !hro"o$o"e !an re$ult in #a!ial5 !ar%ia! an%i""unoloi!al a&nor"alitie$. DiGeore $yn%ro"e i$ one $u!h "ani#e$tation.DiGeore $yn%ro"e i$ %e#ine% &y thy"i! a/la$ia an% #ailure o# /arathyroi%

#or"ation5 %ue to %e#e!ti:e e"&ryoni! %e:elo/"ent o# the thir% an% #ourth/haryneal /ou!he$. Patient$ ty/i!ally /re$ent 0ith hy/o!al!e"i! tetany an%re!urrent :iral an% #unal in#e!tion$ %ue to T9!ell %e#i!ien!y. Car%ia! %e#e!t$a$$o!iate% 0ith thi$ $yn%ro"e are Tetraloy o# 'allot an% interru/te% aorti! ar!h.Chro"o$o"e 6 11. %eletion$ are #oun% in J,4 o# !a$e$ o# DiGeore $yn%ro"e.Choi!e A2 artaener $yn%ro"e /ro%u!e$ i""otile !ilia %ue to an auto$o"alre!e$$i:e "i!rotu&ular %e#e!t. Male in#ertility5 re!urrent $inu$iti$5 an% &ron!hie!ta$i$re$ult. There i$ an a$$o!iation 0ith $itu$ in:er$u$.Choi!e 2 Tu&erou$ $!lero$i$ i$ an auto$o"al %o"inant $yn%ro"e !hara!teri7e% &y!utaneou$ anio#i&ro"a$ a%eno"a $e&a!eu"25 $ei7ure$5 an% "ental retar%ation.Patholoi!al le$ion$ in!lu%e CNS ha"arto"a$ an% &enin neo/la$"$5 renal an% other:i$!eral !y$t$5 a :ariety o# other ha"arto"a$5 an% !ar%ia! rha&%o"yo"a$.Choi!e D2 'rie%rei!h($ ata)ia i$ an auto$o"al re!e$$i:e $/ino!ere&ellar %eeneration0ith /re%o"inantly $/inal ata)ia. It i$ not u$ually a$$o!iate% 0ith #a!ial or /alatal"al#or"ation$5 &ut !an &e a$$o!iate% 0ith hy/ertro/hi! !ar%io"yo/athy.Choi!e E2 Mar#an $yn%ro"e i$ an auto$o"al %o"inant %e#e!t in a !onne!ti:e ti$$uely!o/rotein that !an !au$e !y$ti! "e%i!al ne!ro$i$ o# the aorta. It i$ not o#tena$$o!iate% 0ith a !le#t /alate5 &ut rather a hih ar!he% /alate5 !ro0%e% teeth an% anarro0 #a!e.Choi!e '2 Do0n $yn%ro"e re$ult$ #ro" tri$o"y 1. Patient$ ha:e #lat #a!ie$5/ro"inent e/i!anthal #ol%$5 an% o!!a$ionally a !le#t /alate.

Choi!e G2 Turner($ $yn%ro"e i$ an ?C $e) !hro"o$o"e %i$or%er re$ultin in $hort$tature5 0e&&e% ne!k5 o:arian #ailure5 an% /o$$i&le !oar!tation o# the aorta.

E%u!ational O&


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A. 1FJ,,. 1F1,,,C. 1FH,,,D. 1F,,,E. 1F1,,,

Explanation:

The "other in thi$ $!enario ha$ a 1FH, /ro&a&ility o# !arryin the "utant C'TR allelean% the #ather ha$ a 1F1,, /ro&a&ility o# !arryin the "utant C'TR allele. I# either/arent i$ a !arrier the /ro&a&ility that the !hil% 0ill in her it the "utant allele #ro"that /arent i$ 1F. To inherit the !y$ti! #i&ro$i$ %i$ea$e the !hil% "u$t in%e/en%entlyinherit a "utant allele #ro" &oth /arent$. The /ro&a&ility that the "other i$ a !arrier

an% that $he 0ill tran$"it the "utant allele i$ 1FH,) 11 an% the /ro&a&ility that the#ather i$ a !arrier an% 0ill tran$"it the "utant allele i$ 1FH,) 1F. The /ro&a&ilitythat &oth e:ent$ 0ill o!!ur /ro%u!in a !hil% 0ith !y$ti! #i&ro$i$ i$ the /ro%u!t o# the/ro&a&ilitie$ o# the$e in%e/en%ent

E:ent$ 1FH,)1F2 ) 1F1,, ) 1F2 1F1,,,.

E%u!ational O&


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A. Rea$$ort"ent. Re!o"&inationC. Tran$#or"ationD. Phenoty/i! "i)inE. Inter#eren!e

Explanation:

The a!6ui$ition o# a ne0 :iral $ur#a!e /rotein i$ o#ten all that i$ ne!e$$ary #or a :iru$to in#e!t a ne0 ty/e o# ho$t !ell. In the illu$tration a&o:e5 the :iru$ A eno"eo&tain$ $o"e o# the $ur#a!e !o"/onent$ o# :iru$ an% :i!e :er$a2 0hile &oth:iru$e$ are /re$ent $i"ultaneou$ly in the $a"e hu"an !ell. Thi$ e)!hane i$ %e#ine%a$ /henoty/i! "i)in5 0hi!h enerally o!!ur$ 0hen a ho$t !ell i$ !o9in#e!te% &y t0o:iral $train$ an% /roeny :irion$ are /ro%u!e% that !ontain nu!leo!a/$i% or en:elo/e/rotein$ #ro" the #ir$t $train an% the eno"e o# the $e!on% $train or :i!e :er$a2.Sin!e :iru$ A a!6uire% $o"e :iru$ $ur#a!e /rotein$ &ut no eneti! e)!hane

o!!urre%5 the /roeny are !on$i%ere% /henoty/i!ally "i)e%. The ne)t eneration 0illre:ert to ha:in only :iru$ A ty/e $ur#a!e /rotein$ :iru$ A /henoty/e2 an% 0ill aain&e non9in#e!tiou$ #or hu"an e/itheliu".Choi!e A2 Rea$$ort"ent re#er$ to !hane$ in eno"i! !o"/o$ition that o!!ur 0henho$t !ell$ are !o9in#e!te% 0ith t0o $e"ente% :iru$e$ that e)!hane 0hole eno"e$e"ent$. Thi$ /ro!e$$ !an !au$e $u%%en alteration$ in the $ur#a!e antien$ o# the:iral /roeny5 a$ o&$er:e% 0ith the hihly "utaeni! in#luen7a :iru$. Whenrea$$ort"ent take$ /la!e in a !ell !o9in#e!te% &y t0o :iral $train$ any eno"i!!hane in the #ir$t eneration /roeny that i$ re$/on$i&le #or ne0 in#e!ti:ity tohu"an e/ithelial !ell$ 0ill al$o &e /re$ent in the $e!on% eneration.Choi!e 2 Re!o"&ination "ay &e %e#ine% a$ the e)!hane o# ene$ &et0een t0o

!hro"o$o"e$ %ou&le9$tran%e% DNA "ole!ule$2 &y !ro$$in o:er 0ithin ho"oloou$reion$. When re!o"&ination take$ /la!e in a !ell !o9in#e!te% &y t0o :iral $train$ anyeno"i! !hane in the #ir$t eneration /roeny that i$ re$/on$i&le #or ne0 in#e!ti:ityto hu"an e/ithelial !ell$ 0ill al$o &e /re$ent in the $e!on% eneration.

181

Q NO 17: iru$ A !annot nor"ally in#e!t hu"an e/ithelial !ell$. A#ter e)/o$ure to:iru$ in non9hu"an !ell$5 :iru$ A a!6uire$ the a&ility to in#e!t hu"an e/ithelial!ell$ ho0e:er5 the :iral /arti!le$ enerate% a$ a re$ult o# thi$ in#e!tion $till !annotin#e!t hu"an e/ithelial !ell$. The /heno"enon %e$!ri&e% i$ &e$t !ateori7e% a$0hi!h o# the #ollo0inK


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Choi!e C2 Tran$#or"ation i$ enerally %e#ine% a$ the u/take o# nake% DNA &y a/rokaryoti! or eukaryoti! !ell. In :iroloy thi$ ter" "ay al$o &e u$e% to %e$!ri&e thein!or/oration o# :iral DNA into a ho$t !ell !hro"o$o"e. Tran$#or"ation alter$ theeneti! !o"/o$ition o# the ho$t !ell &ut ty/i!ally !au$e$ no eno"i! !hane in/roeny :irion$.Choi!e E2 Inter#eren!e i$ the inhi&ition &y one :iru$ o# the re/li!ation an%For relea$eo# a $e!on% :iru$ that i$ in#e!tin the $a"e !ell. Si"/le inter#eren!e 0oul% not re$ultin a ne0 /roeny /henoty/e.

E%u!ational O&


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A. Mitral :al:e /rola/$e. Aorti! !oar!tationC. Len$ %i$/la!e"entD. ainal a%eno$i$E. Pan!reati! in$u##i!ien!y

Explanation:The o:arie$ %e$!ri&e% in the :inette are the B$treak o:arie$ o# Turner($ $yn%ro"ekaryoty/e >+ ?O5 la!kin the /aternal ? !hro"o$o"e2. In Turner($ $yn%ro"e5 theo:arie$ %e:elo/ nor"ally %urin #etal li#e. ;o0e:er5 la!k o# the /aternal ?!hro"o$o"e !au$e$ lo$$ o# #olli!le$ &y ae . At /u&erty5 the$e /atient$ %e:elo/nor"al /u&i! hair &ut #ail to un%ero &rea$t %e:elo/"ent or "enar!he %ue too:arian #ailure. Turner($ $yn%ro"e i$ one o# the "o$t !o""on !au$e$ o# /ri"ary

a"enorrhea. Ele:ate% le:el$ o# L; an% ES; are !hara!teri$ti!.Turner($ $yn%ro"e i$ a$$o!iate% 0ith a nu"&er o# e)traona%al a&nor"alitie$5in!lu%in=1. Chara!teri$ti! a//earan!e= $hort $tature5 $hiel% !he$t &roa%5 0ith 0i%ely $/a!e%ni//le$25 0e&&e% ne!k &roa% ne!k 0ith lo0 hairline2. Ly"/he%e"a "ay /re$ent at any ae. Ly"/he%e"a in the neonate i$ $ue$ti:eo# Turner($ $yn%ro"e.H. Car%io:a$!ular "al#or"ation$5 in!lu%in !oar!tation o# the aorta5 &i!u$/i% aorti!:al:e5 an% aorti! %i$$e!tion in a%ulthoo%.Choi!e$ A an% C2 Mitral :al:e /rola/$e an% len$ %i$/la!e"ent are $een in /atient$0ith Mar#an $yn%ro"e. The$e /atient$ are al$o at ri$k #or aorti! root %ilation an%aorti! %i$$e!tion.Choi!e D2 ainal a%eno$i$ i$ re/la!e"ent o# the :ainal $6ua"ou$ e/itheliu" 0ithlan%ular !olu"nar e/itheliu". It o!!ur$ in the #e"ale !hil%ren o# 0o"en e)/o$e% to%iethyl$til&e$trol DES2 %urin /renan!y. ainal a%eno$i$ i$ a /re!ur$or o# !lear!ell a%eno!ar!ino"a o# the :aina.Choi!e E2 Pan!reati! in$u##i!ien!y o!!ur$ in /atient$ 0ith !y$ti! #i&ro$i$.

E%u!ational O&


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A.

Tri$o"y 1. Tri$o"y 1-C. Tri$o"y 1HD. >35 ???E. >35 ??@'. >35 ?@@G. >+5 ?O

Explanation:'lat #a!ial #eature$ an% e)!e$$i:e $kin at the na/e o# the ne!k are t0o o# nu"erou$/henoty/i! #eature$ a$$o!iate% 0ith Do0n $yn%ro"e tri$o"yl2. Other !la$$i!/henoty/i! #in%in$ in!lu%e $lante% /al/e&ral #i$$ure$ an% a $inle tran$:er$e /al"ar!rea$e. i$!eral ano"alie$ are !o""on. Car%ia! %e#e!t$ are #oun% in a//ro)i"ately

hal# o# all in#ant$ 0ith Do0n $yn%ro"e5 0ith the en%o!ar%ial !u$hion %e#e!tatrio:entri!ular $e/tal %e#e!t2 an% :entri!ular $e/tal %e#e!t "o$t o#ten $een.Ga$trointe$tinal tra!t a&nor"alitie$ are al$o i%enti#ie% in 1,91+4 o# thi$ /atient/o/ulation5 an% !an in!lu%e %uo%enal atre$ia5 ;ir$!h$/run($ %i$ea$e5 an%tra!heoe$o/haeal #i$tula.Do0n $yn%ro"e in!i%en!e in!rea$e$ 0ith "aternal ae. The :a$t "a


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A.

'ro" the #ather only. ;al# #ro" the #ather an% hal# #ro" the "otherC. Mo$tly #ro" the #atherD. Mo$tly #ro" the "otherE. 'ro" the "other only

Explanation:

Thi$ /atient ha$ a hy%ati%i#or" "ole. A "ole i$ a #or" o# e$tational tro/ho&la$ti!%i$ea$e that !an &e !la$$i#ie% a$ !o"/lete or /artial. A !o"/lete "ole ha$ no #etal$tru!ture$ an% i$ !o"/o$e% entirely o# lare5 e%e"atou$ an% %i$or%ere% !horioni!:illi that a//ear ro$$ly a$ !lu$ter$ o# :e$i!ular $tru!ture$ 0ith a B&un!h o# ra/e$a//earan!e. Co"/lete "ole$ al"o$t al0ay$ ha:e a > ?? karyoty/e5 an% all

!hro"o$o"e$ are /aternally %eri:e% Choi!e A2. A !o"/lete "ole #or"$ 0hen a$/er" #ertili7e$ an e an% re/li!ate$ it$ o0n !hro"o$o"e$ 0hile eli"inatin the"aternal !hro"o$o"e$. An%roene$i$( i$ the ter" #or thi$ /ro!e$$ o# #or"ation an%$ur:i:al o# ti$$ue o# !o"/letely /aternal %eri:ation.Unlike in a !o"/lete "ole5 a /artial hy%ati%i#or" "ole $ho0$ #or"ation o# $o"e #etal$tru!ture$ ro$$ly. A%%itionally5 a /artial "ole ty/i!ally re$ult$ #ro" #ertili7ation o# ano:u" one $et o# ha/loi% "aternal !hro"o$o"e$2 &y t0o or "ore $/er" t0o $et$o# ha/loi% /aternal !hro"o$o"e$2 re$ultin in karyoty/e$ like J ??@ or J ???.Choi!e 2 In "o$t nor"al /renan!ie$5 hal# o# the !hro"o$o"e$ are #ro" the #atheran% hal# are #ro" the "other.Choi!e$ C an% D2 Con%ition$ !au$e% 0hen a %i$/ro/ortionate a"ount o#!hro"o$o"e$ are either /aternal or "aternal in!lu%e= /artial "olar /renan!y5%i$ea$e$ !au$e% &y !hro"o$o"al non%i$


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A. CD>. CD3C. CD-D. CD1>E. CD,

Explanation:

Thi$ /atient($ hi$tory o# niht $0eat$5 0eiht lo$$5 an% !ouh toether 0ith the#in%in o# a/i!al /ul"onary ranulo"a$ $ho0in !a$eou$ ne!ro$i$ are hihly$ue$ti:e o# $e!on%ary tu&er!ulo$i$. The !a$eatin ranulo"a$ o# tu&er!ulo$i$

!on$i$t o# lare e/ithelioi% "a!ro/hae$ 0ith /ale /ink ranular !yto/la$"$urroun%in a !entral reion o# ne!roti! %e&ri$. CD> i$ a $ur#a!e "arker o# the"ono!yte9"a!ro/hae !ell I"ae.Choi!e A2 Toether 0ith T9!ell re!e/tor$ CD> tran$"e"&rane /rotein$ re!oni7eantien$ /re$ente% &y M;C Cla$$ II "ole!ule$. CD> i$ thu$ #oun% on the $ur#a!e o#M;C Il9re$tri!te% T9hel/er !ell$. Althouh ranulo"a$ "ay &e $urroun%e% &y a !ollaro# "ononu!lear leuko!yte$5 "ainly ly"/ho!yte$ /o$$i&ly in!lu%in CD> T9!ell$2an% $o"e /la$"a !ell$5 the$e are %i$tin!t #ro" the lare e/ithelioi% "a!ro/hae$that are al"o$t al0ay$ /re$ent in ranulo"a$.Choi!e 2 CD3 i$ a "ulti9!hain !o"/le) T9!ell "arker.Choi!e C2 CD- i$ a tran$"e"&rane /rotein a$$o!iate% 0ith T9!ell re!e/tor$.Toether the$e /rotein$ re!oni7e antieni! /e/ti%e$ /re$ente% &y M;C Cla$$ I"ole!ule$. Thu$ CD- i$ #oun% on the $ur#a!e o# M;C I re$tri!te% !ytoto)i! T9!ell$.Choi!e E2 CD, i$ a 9!ell $ur#a!e "arker. Mono!lonal anti&o%ie$ aain$t the CD9,antien Ritu)i"a&2 ha:e &een $u!!e$$#ul in the treat"ent o# ly"/ho"a$.

E%u!ational O& at the /eri/hery.CD1> i$ a $ur#a!e "arker o# the "ono!yte9"a!ro/hae !ell I"ae. CD> an% CD-are $ur#a!e "arker$ o# T9hel/er an% T9killer !ell$ re$/e!ti:ely.

186

Q NO 21: A >9year9ol% re!ent Ru$$ian i""irant %e$!ri&e$ a lon hi$tory o# 0eihtlo$$5 niht $0eat$ an% nain !ouh. I"ain an% &io/$y o# hi$ lun$ re:ealnu"erou$ a/i!al ranulo"a$ 0ith !entral !a$eou$ ne!ro$i$. Surroun%in the ne!roti!area$ are lare !ell$ 0ith a&un%ant /ale !yto/la$"= the$e !ell$ "o$t likely ha:e0hi!h o# the #ollo0in $ur#a!e "arker$K


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I# inherite%5 thi$ /atient($ %i$or%er i$ "o$t likely to &e 0hi!h o# the #ollo0inK

A. Sinle ene ?9linke%. Sinle ene auto$o"al re!e$$i:eC. Sinle ene auto$o"al %o"inantD. Mito!hon%rialE. Continuou$ ene %eletion'. Multi#a!torial

Explanation:The "ulti/le $"all !utaneou$ le$ion$ $ho0n in the i"ae are "o$t likelyneuro#i&ro"a$ a$$o!iate% 0ith NE ty/e 1. It i$ an auto$o"al %o"inant !on%ition 0ithhih /enetran!e "o$t /atient$ 0ho inherit the ene %e:elo/ the %i$ea$e2. Mutationo# the N'91 ene5 lo!ate% on !hro"o$o"e 135 i$ re$/on$i&le #or thi$ %i$or%er.The /re$entation o# N'91 i$ hihly :aria&le= all or none o# the #ollo0in $y"/to"$"ay&e /re$ent in any in%i:i%ual 0ho $u##er$ #ro" N'91.1. Skin= Ca#9au9Iait $/ot$ are hy/er/i"ente% le$ion$ 0ith either $"ooth orirreular &or%er$. The /re$en!e o# a)illary or inuinal #re!kle$ i$ another !utaneou$#eature o# NE9i.. Neuro#i&ro"a$= $ort5 $e$$ile or /e%un!ulate% le$ion$ that :ary in $i7e. They are!o""only "ulti/le an% %i$tri&ute% throuhout the &o%y.H. Eye= O/ti! ner:e lio"a$ "ay o!!ur an% !au$e :i$ual lo$$. Li$!h no%ule$ are/i"ente% ha"arto"a$ o# the iri$ an% are a$y"/to"ati!.>. ony a&nor"alitie$ in!lu%e $/henoi% %y$/la$ia5 !onenital /$eu%oarthro$i$5 an%$!olio$i$.+. Other a$$o!iate% tu"or$= "eninio"a$5 lio"a$5 /heo!hro"o!yto"a$. Thi$/atient($ hea%a!he$ an% le#t le 0eakne$$ are /ro&a&ly the re$ult o# a "eninio"a.

E%u!ational O&


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A. Tri$o"y 1. Tri$o"y 1-C. Tri$o"y 1HD. >35 ???E. >35 ??@'. >+5 ?O

Explanation:Turner $yn%ro"e >+5 ?O2 i$ the likely %iano$i$ in a $till&orn #etu$ 0ith nu!hale%e"a &roa% !he$t5 an% !oar!tation o# the aorta. Mo$t #etu$e$ /o$$e$$in the >+ ?Okaryoty/e a&ort $/ontaneou$ly5 0ith $tu%ie$ $ue$tin that 1+4 o# all $/ontaneou$a&ortion$ are %ue to Turner $yn%ro"e. The "o$t /ro"inent #in%in in the neonate or

#etu$ 0ith Turner $yn%ro"e i$ ly"/he%e"a o# the han%$ an% #eet. A&nor"al nu!hally"/hoene$i$ !au$e$ $u&!utaneou$ nu!hal e%e"a an% !y$ti! hyro"a in utero. Thely"/he%e"a i$ al$o re$/on$i&le #or other !o""on "ani#e$tation$ o# Turner$yn%ro"e5 in!lu%in the 0e&&e% ne!k an% lo0 /o$terior hair line. Car%ia!a&nor"alitie$ a$$o!iate% 0ith Turner $yn%ro"e in!lu%e !oar!tation o# the aorta an%a &i!u$/i% aorti! :al:e. ;or$e$hoe ki%ney #u$ion o# ki%ney$ at the "i%line2 i$ al$oi%enti#ie% in "any Turner $yn%ro"e #e"ale$. In the a%ult5 !la$$i! !lini!al"ani#e$tation$ o# Turner $yn%ro"e in!lu%e $hort $tature5 &roa% $hiel%9like !he$t50e&&e% ne!k5 an% /ri"ary o:arian #ailure. The o:arie$ &e!o"e in#iltrate% 0ith#i&rou$ ti$$ue B$treak o:arie$2 an% #ail to /ro%u!e e$troen$.Choi!e A2 The #etu$ 0ith Do0n $yn%ro"e tri$o"y 12 0ill ty/i!ally ha:e a #lat #a!e5a&nor"al ear$5 $lante% /al/e&ral #i$$ure$5 re%un%ant $kin at the na/e o# the ne!k5hy/otonia5 /el:i! %y$/la$ia5 an% $inle tran$:er$e /al"ar !rea$e.Choi!e 2 Tri$o"y 1- E%0ar%$ $yn%ro"e2 i$ the $e!on% "o$t !o""on auto$o"altri$o"y i%enti#ie% in li:e&orn in#ant$. Clini!al "ani#e$tation$ in!lu%e /ro"inento!!i/ut5 "i!ronathia5 $"all "outh5 lo09$et an% "al#or"e% ear$5 an% ro!ker9&otto"#eet. Clen!he% han%$ 0ith the in%e) #iner o:erri%in the "i%%le #iner an% the #i#th#iner o:erri%in the #ourth #iner are !hara!teri$ti! #or thi$ !on%ition.Choi!e C2 Tri$o"y 1H Patau $yn%ro"e2 i$ the thir% "o$t !o""on auto$o"altri$o"y i%enti#ie% in li:e&orn in#ant$5 an% the "o$t $e:ere. A##e!te% #etu$e$ ty/i!allyha:e holo/ro$en!e/haly5 "i!ro!e/haly5 /oly%a!tyly an% ro!ker9&otto" #eet. Multi/le

#a!ial a&nor"alitie$ e5 hy/otelori$"5 "i!ro/hthal"ia5 !le#t li/5 !le#t /alate5 a&$entor "al#or"e% no$e2 #re6uently o!!ur.Choi!e D2 The >3 ??? karyoty/e i$ ty/i!ally !lini!ally $ilent. So"e a##e!te%in%i:i%ual$ "ay ha:e $lihtly %e!rea$e% 1, $!ore$. An in!rea$e% ri$k o# $till&irth i$not a$$o!iate% 0ith thi$ karyoty/e.Choi!e E2 The >35 ??@ line#elter $yn%ro"e2 "ay &e a$$o!iate% 0ith "il% "entalretar%ation or nor"al intellien!e. The ty/i!al /atient i$ a tall "ale 0ithyne!o"a$tia5 $"all te$te$5 an% in#ertility. An in!rea$e% ri$k o# $till&irth i$ nota$$o!iate% 0ith thi$ karyoty/e.E%u!ational O&


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A. Reulation o# !ell !y!le. Sinal tran$%u!tionC. DNA e)!i$ion re/airD. DNA "i$"at!h re/airE. Pre:ention o# "i!ro %eletion'. Reulation o# a/o/to$i$

Explanation:

Thi$ !lini!al :inette %e$!ri&e$ the ty/i!al /re$entation o# )ero%er"a /i"ento$u"50hi!h literally "ean$ /i"ente% %ry $kin. Thi$ auto$o"al re!e$$i:e AR2 !on%itiono!!ur$ %ue to %e!rea$e% a&ility to re/air DNA #ollo0in %a"ae &y U liht. The $kin

o# a##e!te% in%i:i%ual$ i$ nor"al at &irth. The %i$ea$e "ani#e$t$ %urin the #ir$t yearo# li#e 0ith erythe"a5 $!alin an% $u&$e6uent hy/er/i"entation an% lentio#or"ation on liht9e)/o$e% area$ e$/e!ially the #a!e2. Later5 the $kin o# a##e!te%area$ $ho0$ atro/hy telanie!ta$ia$ an% inter"inlin area$ o# hy/o9an%hy/er/i"entation$. Skin "alinan!ie$5 in!lu%in $6ua"ou$ !ell !ar!ino"a5 &a$al!ell !ar!ino"a an% "alinant "elano"a5 %e:elo/ a$ early a$ at +9 year$ o# li#e.Nor"ally the reion$ o# DNA %a"ae% &y U ra%iation are e)!i$e% an% re/la!e%. In)ero%er"a /i"ento$u"5 the ene$ that !o%e #or :ariou$ DNA re/air en7y"e$ area&nor"al. I"/air"ent o# DNA re/air re$ult$ %ue to %e#e!t$ in e)!i$ion o# a&nor"alnu!leoti%e$ or %e#e!t$ in re/la!e"ent o# nu!leoti%e$ #ollo0in e)!i$ion.Other %i$ea$e$ a$$o!iate% 0ith i"/aire% DNA re/air in!lu%e 'an!oni ane"ia AR5hy/er$en$iti:ity to DNA !ro$$9 linkin aent$2 an% loo" $yn%ro"e AR5hy/er$en$iti:ity to U %a"ae an% !he"othera/euti! aent$2 a"on other$.Choi!e A2 The R& retino&la$to"a2 ene i$ re$/on$i&le #or reulation o# the !ell!y!le. The a&nor"al R& /rotein lo$e$ it$ a&ility to arre$t the !ell !y!le in the ,1/ha$e. Mutation o# R& i$ a$$o!iate% 0ith retino&la$to"a an% o$teo$ar!o"a.Choi!e 2 Mutation o# ra$ /rotein i$ #oun% in "any ty/e$ o# !an!er$. Ra$ !o%e$ #or a,9/rotein that reulate$ $inal tran$%u!tion. A&nor"al ra$ $ti"ulate$ $inaltran$%u!tion lea%in to unreulate% !ell %i:i$ion5 inhi&ite% a/o/to$i$ an% %e!rea$e%!ell a%he$ion. The$e /re%i$/o$e to "alinan!y an% "eta$ta$i$.Choi!e D2 A&nor"alitie$ o# ene$ re$/on$i&le #or DNA "i$"at!h re/air are #oun% in

/atient$ 0ith here%itary non/oly/o$i$ !olore!tal !an!er ;NPCC or Lyn!h $yn%ro"e2.The$e /atient$ ha:e hiher in!i%en!e o# !olore!tal !ar!ino"a an% other"alinan!ie$.Choi!e$ E an% '2 ?ero%er"a /i"ento$u" i$ not a$$o!iate% 0ith "utation o# ene$that /re:ent "i!ro %eletion$ or reulate a/o/to$i$ thouh %y$reulation o# a/o/to$i$ha$ &een i"/li!ate% in "any #or"$ o# hu"an !an!er.

E%u!ational O&


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A. Turner $yn%ro"e. O"/halo!eleC. Tri$o"y 1D. 'etal al!ohol $yn%ro"eE. Neural tu&e %e#e!t$

Explanation:

Do0n $yn%ro"e i$ the "o$t !o""on !hro"o$o"al a&nor"ality5 an% the $e!on%"o$t !o""on !au$e o# "ental retar%ation. It i$ a$$o!iate% 0ith a%:an!e% "aternalae an% !an &e %iano$e% /renatally. Tri/le te$t /er#or"e% at 0eek$ 191- o#e$tation %ete!t$ lo0 al/ha9#eto/rotein AEP2 le:el$. A #in%in o# lo0 AEP on tri/lete$t i$ a$$o!iate% 0ith a %iano$i$ o# Do0n $yn%ro"e an% i$ there#ore an in%i!ation

#or a"nio!ente$i$. aryoty/in o# #etal !ell$ !ontaine% in a"nioti! #lui% !an %iano$eDo0n $yn%ro"e.A&out J,4 o# /atient$ 0ith Do0n $yn%ro"e ha:e tri$o"y 1. The /arent$ o# the$e/atient$ are nor"al an% 0ith the a&nor"ality ari$in a$ a !on$e6uen!e o# "eioti!non9%y$


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A. The ri$k #or the !hil% to &e $hort i$ a&out +,4.. The ri$k %e/en%$ on the "other($ !arrier $tatu$.C. The ri$k %e/en%$ on the !hil%($ en%er.D. The ri$k #or the !hil% to &e $hort i$ a&out +4.E. The !on%ition i$ not inherita&le.

Explanation:The hu$&an% in thi$ :inette ha$ %i$/ro/ortionately9$hort ar"$ an% le$5 0hi!h$tronly $ue$t$ a!hon%ro/la$ia. The "o$t !o""on %e#e!t in a!hon%ro/la$ia i$ an

a!ti:atin "utation o##i&ro&Ia$troth#a!torre!e/tor9H. Patient$ 0ith a!hon%ro/la$iaha:e a nor"al $/ine lenth5 &ut ha:e $hort li"&$5 a lare hea%5 an% $o"eti"e$ a$a%%le no$e. Tran$"i$$ion o# a!hon%ro/la$ia i$ auto$o"al %o"inant. I# one /arentha$ an a&nor"al auto$o"al ene5 there i$ a +,4 !han!e that the /arent 0illtran$"it the ene to the !hil%5 0hi!h "ean$ a +,4 ri$k that the !hil% 0ill ha:e the%i$ea$e. So"eti"e$ an inherite% auto$o"al %o"inant trait %oe$ not re$ult in the%i$ea$e /henoty/e thi$ /heno"enon i$ kno0n a$ Bin!o"/lete /enetration.Choi!e$ an% C2 In $e)9linke% %i$or%er$5 the re$/on$i&le ene i$ lo!ate% on a $e)!hro"o$o"e either ? or @2. Mo$t $e)9linke% %i$or%er$ are ?9linke% re!e$$i:e. In ?9linke% re!e$$i:e %i$or%er$5 0o"en 0ith the %e#e!ti:e ene 0ill not ha:e the %i$or%er5&ut 0ill &e B!arrier$. Wo"en 0ith the a##e!te% ?9linke%5 re!e$$i:e ene ha$ a +,4!han!e o# /a$$in that ene on to their "ale or #e"ale !hil%ren. The %i##eren!e i$that "ale !hil%ren only ha:e one ? !hro"o$o"e an% 0ill &e a##li!te% 0ith the%i$or%er. A##e!te% #e"ale !hil%ren 0ill &e %i$ea$e9#ree &ut 0ill &e !arrier$. The!han!e$ &ra !arrier #e"ale to i:e &irth to an %i$ea$e% #e"ale i$ :irtually ,4 the!han!e$ o# her i:in &irth to an a##e!te% "ale !hil% i$ a&out +,4. Male$ !arryin an?9linke%5 re!e$$i:e ene are a##e!te% their %auhter$ al0ay$ &e!o"e !arrier$ &uttheir $on$ are ne:er a##e!te% &e!au$e they %o not re!ei:e an ? !hro"o$o"e #ro"the #ather2.In ?9linke% %o"inant %i$or%er$ &oth "ale$ an% #e"ale$ are a##e!te%. O# the $on$ an%%auhter$ o# an a##e!te% #e"ale a//ro)i"ately +,4 0ill ha:e the %i$or%er. 'or an

a##e!te% "ale all o# hi$ %auhter$ 0ill &e a##e!te% an% none o# hi$ $on$ 0ill !arry or"ani#e$t the %i$ea$e.

191

Q NO 26: A "arrie% !ou/le /re$ent$ to your o##i!e #or routine /renatal !oun$elin.@ou noti!e that the hu$&an% i$ 1, !" >32 tall 0ith %i$/ro/ortionately9$hortu//er an% lo0er e)tre"itie$. ;e !annot /ro:i%e #a"ily hi$tory &e!au$e he 0a$a%o/te%. ;i$ $/ou$e ha$ nor"al !on$titutional #eature$ an% her #a"ily hi$tory i$in$ini#i!ant. They are !on!erne% a&out their un&orn !hil%($ heiht. Whi!h o# the#ollo0in i$ the &e$t re$/on$e to their !on!ern$K


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Choi!e D2 A&out +4 o# !hil%ren are a##e!te% in auto$o"al re!e$$i:e %i$or%er$5 i#&oth /arent$ !arry the %e#e!ti:e ene. A hi$tory o# !on$anuinity i$ $o"eti"e$/re$ent in auto$o"al9re!e$$i:e %i$or%er$. Many o# the auto$o"al re!e$$i:e %i$or%er$are !au$e% &y en7y"ati! %e#i!ien!ie$. In hetero7yote$5 the en7y"e a!ti:ity i$

re%u!e% &y only a&out +,4 an a"ount o# en7y"ati! a!ti:ity that i$ u$ually $u##i!ientto /re:ent the o!!urren!e o# %i$ea$e.

E%u!ational O&


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A. Sa"e a$ the eneral /o/ulation. 1FHC. 1F1D. 11-E. 1F>'. 1F

Explanation:Mental retar%ation5 e!7e"a5 an% a "ou$y5 "u$ty &o%y o%or are $in$ o#/henylketonuria PU2. PU i$ an auto$o"al re!e$$i:e %i$ea$e !au$e% &y "utation

o# the ene that !o%e #or /henylalanine hy%ro)yla$e. In the Unite% State$5/henylalanine le:el$ are "ea$ure% in all neonate$ to $!reen #or PU.e!au$e PU i$ inherite% in an auto$o"al re!e$$i:e #a$hion5 0e kno0 that &oth o#the /arent$ %e$!ri&e% a&o:e "u$t &e hetero7you$ !arrier$ o# the "utation. The/ro&a&ility that their ne)t !hil% 0ill inherit the %i$ea$e i$ thu$=/1 /ro&a&ility that the "other tran$"it$ the "utant allele 1F/ /ro&a&ility that the #ather tran$"it$ the "utant allele 1Fe!au$e the$e are in%e/en%ent e:ent$5 the /ro&a&ility( that a !hil% 0ill inherit a"utant allele #ro" ea!h !arrier /arent i$ e6ual to /1l ) /4.

E%u!ational O&


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A. t-1>2. tJ2C. t1+132D. t111>2E. 1H69

Explanation:Thi$ /eri/heral &loo% $"ear $ho0$ $e:eral "yelo&la$t$5 0hi!h are lare !ell$ 0itha&un%ant &a$o/hili! !yto/la$". Myelo&la$t$ ha:e a lare nu"&er o# !oar$e ro%9$ha/e% intra!yto/la$"i! ranule$5 !alle% Auer ro%$5 a #in%in !hara!teri$ti! o# a!ute"yeloenou$ leuke"ia AML2.AML i$ %i:i%e% into eiht ty/e$=

The MH :ariant o# AMLI a!ute /ro"yelo!yti! leuke"ia5 i$ a$$o!iate% 0ith the!ytoeneti! a&nor"ality 1+ 132. Thi$ !ytoeneti! !hane !au$e$ tran$#er o# theene #or retinoi! a!i% re!e/tor al/ha #ro" !hro"o$o"e 1to !hro"o$o"e 1+ in alo!ation a%


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/ro%u!tion o# the on!oene &e!au$e o# the #re6uen!y 0ith 0hi!h the i""unolo&ulinene i$ tran$!ri&e%.Choi!e 2 Tran$lo!ation o# the a&l ene #ro" !hro"o$o"e J to !hro"o$o"e i$!hara!teri$ti! #or !hroni! "yeloenou$ leuke"ia CML2. tJ2 #or"$ the BPhila%el/hia !hro"o$o"e an% re$ult$ in the #or"ation o# a ne0 ene5 &!r9a&l50ho$e /ro%u!t ha$ tyro$ine kina$e a!ti:ity.Choi!e D2 Mantle !ell ly"/ho"a i$ a 9!ell "alinan!y a$$o!iate% 0ith t111>2.Thi$ tran$lo!ation re$ult$ in a!ti:ation o# the !y!lin D ene.Choi!e E2 Deletion o# 1H6 i$ one o# the "ole!ular %e#e!t$ $een in !hroni!ly"/ho!yti! leuke"ia CLL2.

E%u!ational O&


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A. TN'9. IL91C. IL9>D. IL9+E. IL91,'. IL91

Explanation:E$$entially5 thi$ 6ue$tion a$k$ u$ to i%enti#y 0hi!h o# the li$te% !ytokine$ ha$ anti9in#la""atory e##e!t$. TG'98 an% "e"&er$ o# the IL91, #a"ily are !urrently !la$$i#ie%

a$ anti9in#la""atory !ytokine$. Al"o$t all !ell$ e)/re$$ TG'98 re!e/tor$. TGE98inhi&it$ Th ly"/ho!yte %i##erentiation5 !ytoto)i! T9!ell a!ti:itie$5 an% 9!elli""unolo&ulin $e!retion. It "ay al$o $u//re$$ N !ell$ LA !ell$5 an% the!ytoto)i!ity o# "ononu!lear /hao!yte$.In hu"an$5 "ono!yte$ an% 9!ell$ are the "a5 IL9+5 an% IL91 $ti"ulate lo!ali""une rea!tion$ an% "ay there#ore &e !on$i%ere% /ro9in#la""atory. IL91 al$o a!t$$y$te"i!ally to /ro"ote #e:er an% other a$/e!t$ o# the a!ute /ha$e re$/on$e.

196

Q NO 29: A H9year9ol% "ale 0ith a lon hi$tory o# %iarrhea an% !ra"/y a&%o"inal/ain i$ $u$/e!te% to ha:e ul!erati:e !oliti$. A !olon &io/$y re:eal$ e)ten$i:ein#la""atory !ell in#iltration o# the "u!o$a. In the t0o 0eek$ #ollo0in the &io/$y5the /atient($ !on%ition i"/ro:e$5 %e$/ite not re!ei:in any ne0 treat"ent$. A re/eat&io/$y re:eal$ "arke%ly %e!rea$e% in#la""ation. Whi!h o# the #ollo0in !ytokine$"o$t likely !ontri&ute% to thi$ !haneK


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A. I"/aire% $ynthe$i$ o# a tran$"e"&rane /rotein. A&nor"al /o$t9tran$lational /ro!e$$in o# a tran$"e"&rane /roteinC. De!rea$e% e/ithelial e)/re$$ion o# a nor"al tran$"e"&rane /roteinD. Poor AIP &in%in &y a tran$"e"&rane /roteinE. De!rea$e% ion !on%u!tion &y a tran$"e"&rane /rotein

Explanation:

;ih $0eat !hlori%e !on!entration i$ #oun% in !y$ti! #i&ro$i$ CE2. C' i$ !hara!teri7e%&y /an!reati! in$u##i!ien!y5 $ino/ul"onary in#e!tion$5 an% "ala&$or/tion. The "o$t!o""on CETR ene a&nor"ality #oun% in a//ro)i"ately 3,4 o# !a$e$2 i$ a H9&a$e/air %eletion that re"o:e$ a /henylalanine at a"ino a!i% /o$ition +,- *' +,-2. The/henylalanine %eletion !au$e$ a&nor"al #ol%in an% #ailure o# ly!o$ylation. The

a&nor"al /rotein i$ %era%e% &e#ore it rea!he$ the !ell $ur#a!e. The *'+,- an% "o$tother CETR "utation$ !au$e a !o"/lete a&$en!e o# CETR #ro" the a/i!al "e"&raneo# e)o!rine %u!tal e/ithelial !ell$.

E%u!ational O&


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A. Auto$o"al %o"inant. Auto$o"al re!e$$i:eC. ?9linke%D. Mito!hon%rialE. S/ora%i!

Explanation:Thi$ /atient %e$!ri&e$ a !on%ition 0ith the #ollo0in inheritan!e /attern=

The re% arro0 i%enti#ie$ the !a$e /atient2 un%er !on$i%eration. Thi$ /e%iree !oul%re/re$ent auto$o"al %o"inant or ?9Linke% %o"inant tran$"i$$ion &e!au$e the%i$ea$e i$ tran$#erre% to &oth "ale an% #e"ale o##$/rin #ro" &oth "ale an% #e"ale/arent$5 an% all eneration$ are a##e!te%.The "o$t !o""on ty/e o# hair lo$$ in "ale$ an% #e"ale$ i$ an%roeneti! alo/e!ia"ale /attern &al%ne$$2. An%roeneti! alo/e!ia ha$ auto$o"al %o"inant inheritan!e0ith :aria&le /enetran!e an% e)/re$$ion.Choi!e 2 The !la$$i! /e%iree #or auto$o"al re!e$$i:e inheritan!e $ho0$ %i$ea$e%e:elo/"ent in +4 o# o##$/rin #ro" t0o a$y"/to"ati! !arrier /arent$. Ty/i!allyonly one eneration i$ a##e!te%.Choi!e D2 Con%ition$ /a$$e% &y "ito!hon%rial inheritan!e are tran$"itte% only &y#e"ale$. A##e!te% "ale$ !annot /a$$ the %i$or%er to their o##$/rin.Choi!e E2 y %e#inition5 $/ora%i! !a$e$ %o not #ollo0 an inheritan!e /attern.S/ora%i! !a$e$ o!!ur ha/ha7ar%ly a"on unrelate% "e"&er$ o# a /o/ulationo:erti"e. 'or e)a"/le there "ay&e a $/ontaneou$ ene "utation that !au$e$ a$/ora%i! %i$or%er in an in%i:i%ual 0ith no #a"ily hi$tory o# the %i$ea$e.

E%u!ational O&


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A. A. C. CD. DE. E

Explanation:

The "ale !hil% in the :inette ha$ %elaye% /u&erty /lu$ ano$"ia5 !on$i$tent 0ith a%iano$i$ o# all"ann($ $yn%ro"e. all"ann($ $yn%ro"e re$ult$ #ro" a #ailure o#

GnR;9$e!retin neuron$ to "irate #ro" their oriin in the ol#a!tory /la!o%e$ituate% out$i%e the !entral ner:ou$ $y$te"2 to their nor"al anato"i! lo!ation inthe hy/othala"u$. Mo$t o#ten1 the !au$e i$ a "utation in either the AL91 ene orthe #i&ro&la$t ro0th #a!tor re!e/tor9i ene5 0hi!h !o%e #or /rotein$ re6uire% in thi$"iration.Patient$ 0ith all"ann($ $yn%ro"e !la$$i!ally ha:e !entral hy/oona%i$" an%ano$"ia5 thouh there "ay &e other "i%line %e#e!t$ a$ 0ell e.. !le#t li/ or !le#t/alate2. Mo$t o#ten the$e$ /atient$ /re$ent 0ith %elaye% /u&erty. On /hy$i!al e)a"5the te$te$ are o#ten in "ale$ an% &y ae 1in #e"ale$. Te$ti!ular enlare"ent i$ the #ir$t $in o# /u&erty in "ale$ an% &rea$tenlare"ent i$ the #ir$t $in in #e"ale$. The initiation o# /u&erty an% the

199

Q NO 32: A 1>9year9ol% Cau!a$ian "ale i$ &rouht to your o##i!e &y hi$ "other. Shei$ !on!erne% &e!au$e althouh tall her $on look$ "u!h youner than hi$ /eer$ an%$ho0$ no $in$ o# "a$!ulinity.( On /hy$i!al e)a"ination5 the &oy ha$ /oorly9%e:elo/e% $e!on%ary $e)ual !hara!teri$ti!$. ;e i$ una&le to %i$tinui$h $"ell$5 &utha$ oo% :i$ual a!uity. Whi!h o# the #ollo0in /ath0ay$ i$ "o$t likely %e#e!ti:e inthi$ /atientK


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"aintenan!e o# $e!on%ary $e)ual !hara!teri$ti!$ an% #ertility re6uire the !oor%inate%e##ort$ o# the hy/othala"u$1 /ituitary an% ona%$. Delaye% /u&erty !an re$ult #ro"a %erane"ent any0here in thi$ a)i$.Choi!e$ 5 C5 D5 an% E2 The$e /ath0ay$ re/re$ent nor"al #ee%&a!k loo/$ &et0eenthe te$te$ an% the hy/othala"u$ an% /ituitary. Pituitary 'S; $ti"ulate$ /roli#erationo# the $e"ini#erou$ tu&ule$ an% $/er"atoene$i$. The $e"ini#erou$ tu&ule$ /ro%u!einhi&in5 0hi!h #ee%$ &a!k to inhi&it /ituitary I(S; $e!retion. L; #ro" the /ituitary($ti"ulate$ the inter$titial Ley%i !ell$ to /ro%u!e te$to$terone1 0hi!h al$o/arti!i/ate$ in #ee%&a!k inhi&ition.

E%u!ational O&


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A. E)on %eletion. Chro"o$o"al &reak$C. Gene "ethylationD. I"/aire% intron $/li!inE. Mi$"at!h re/air %ete!t

Explanation:Thi$ /atient ha$ #raile ? $yn%ro"e5 the $e!on% "o$t !o""on !au$e o# inherite%"ental retar%ation in "ale$ a#ter Do0n $yn%ro"e. In%i:i%ual$ 0ith #raile ?$yn%ro"e o#ten ha:e #a!ial %y$"or/hi$" !hara!teri7e% &y a lon thin #a!e. a/ro"inent #orehea% an%


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A. Li:er #ailure. Car%io"yo/athyC. Renal %i$ea$eD. Intra!ranial &lee%inE. Aorti! %i$$e!tion'. rain tu"or

Explanation:'rie%rei!h ata)ia i$ an auto$o"al re!e$$i:e !on%ition. The /o$terior !olu"n$ an% the$/ino!ere&ellar tra!t$ o# the $/inal !or% $ho0 %eeneration an% lo$$ o# the larer

$en$ory !ell$ o# the %or$al root anlia i$ al$o $een. 'rie%rei!h ata)ia /re$ent$ in!hil%ren +91+ year$ ol% a$ ait ata)ia /rore$$i:ely $lo0 an% !lu"$y 0alkin2. A0i%e9&a$e% ait 0ith %i##i!ulty "aintainin &alan!e i$ !hara!teri$ti!.The #ollo0in $y"/to"$ are a$$o!iate% 0ith 'rie%rei!h ata)ia=1. Prore$$i:e ata)ia o# all #our li"&$5 !au$e% &y !ere&ellar %y$#un!tion5 i$ $een :eryearly. Deeneration o# %or$al !olu"n$ lea%$ to lo$$ o# /o$ition an% :i&ration$en$ation.. ;y/ertro/hi! !ar%io"yo/athy %e:elo/$ in "ore than +,4 o# /atient$. It lea%$ to!ar%ia! arrhyth"ia$ an% !one$ti:e heart #ailure C;'2.H. Skeletal a&nor"alitie$ in!lu%e ky/ho$!olio$i$5 /e$ !a:u$5 an% ha""ertoe$.>. Dia&ete$ "ellitu$ %e:elo/$ in a&out 1,4 o# the /atient$.Co"/li!ation$ #ro" !ar%io"yo/athy an% &ul&ar %y$#un!tion una&le to /rote!tair0ay2 are the "o$t !o""on !au$e$ o# %eath in /atient$ 0ith 'rie%rei!h ata)ia.The !on%ition$ "entione% in the other !hoi!e$ are not a$$o!iate% 0ith 'rie%rei!hata)ia.Choi!e A2 Li:er #ailure i$ a$$o!iate% 0ith Wil$on %i$ea$e.Choi!e C2 i%ney %i$ea$e i$ a$$o!iate% 0ith /oly!y$ti! ki%ney %i$ea$e5 an% /re$ent$at later ae.Choi!e D2 Intra!ranial &lee%in i$ a$$o!iate% 0ith ru/ture o# erry aneury$".Choi!e E2 Aorti! %i$$e!tion i$ a$$o!iate% 0ith Mar#an $yn%ro"e.Choi!e '2 rain tu"or lio"a2 i$ a$$o!iate% 0ith neuro#i&ro"ato$i$.

E%u!ational O&


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A.

;y/othyroi%i$". Do0n $yn%ro"eC. otuli$"D. ;ir$!h$/run %i$ea$eE. Phenylketonuria

Explanation:The in#ant %e$!ri&e% a&o:e %i$/lay$ $y"/to"$ !on$i$tent 0ith !onenitalhy/othyroi%i$". A##e!te% neonate$ a//ear lethari!5 #ee% /oorly5 e)hi&it /rolone% -9year9ol% "ulti/araan% the #a"ily re!ently e"irate% #ro" Ea$tern Euro/e. Phy$i!al e)a"inationre:eal$ "il%


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A. 1,,4. 3+4C. +,4D. +4E. ,4

Explanation:lot!hy re% "u$!le #i&er$ on Go"ori tri!hro"e $tain are !hara!teri$ti! o# the"ito!hon%rial "yo/athie$. In the$e !on%ition$5 a&nor"al "ito!hon%ria a!!u"ulateun%er the $ar!ole""a o# "u$!le #i&er$. The #i&er$ ha:e an irreular $ha/e an% $i7eon !ro$$ $e!tion. 'or thi$ rea$on the "ito!hon%rial "yo/athie$ are al$o kno0n a$ the

Bre% rae% #i&er %i$ea$e$. Ele!tron "i!ro$!o/y o# the a##e!te% "u$!le re:eal$ anin!rea$e% nu"&er o# enlare%5 a&nor"ally $ha/e% "ito!hon%ria.The "o$t i"/ortant "ito!hon%rial "yo/athie$ are "yo!loni! e/ile/$y 0ith rae%re% #i&er$ MERR'5 %e$!ri&e% in thi$ :inette25 Le&er o/ti! neuro/athy &lin%ne$$25an% "ito!hon%rial en!e/halo/athy 0ith $troke9like e/i$o%e$ an% la!ti! a!i%o$i$MELAS2. Ea!h o# the$e %i$ea$e$ i$ the re$ult o# a "ito!hon%rial ene "utation.The "ito!hon%rial %i$ea$e$ are !au$e% &y "utation$5 %eletion$ or %u/li!ation$ o#"tDNA. e!au$e $/er" "ito!hon%ria %o not /a$$ into the o:u" %urin #ertili7ationonly "aternal "ito!hon%ria are tran$"itte% to the #etu$. Mito!hon%rial %i$ea$e$there#ore ha:e "aternal inheritan!e. 'or thi$ rea$on the "ale /atient %e$!ri&e% inthi$ :inette 0ill not tran$"it the %i$ea$e to hi$ /roeny.Choi!e 2 No /ure $inle9ene inherite% %i$ea$e $ho0$ 3+4 tran$"i$$ion. There"ay &e 3+4 tran$"i$$ion #or a %i$ea$e 0ith :aria&le /enetran!e.In%i:i%ual$ a##e!te% &y a %i$ea$e 0ith auto$o"al %o"inant inheritan!e re!ei:e one!o/y o# the a&nor"al ene #ro" one /arent. The !han!e that an a##e!te% /er$on0ill$ tran$"it the %i$ea$e to hi$Fher !hil% i$ +,4 Choi!e C2 i# the /arent i$hetero7you$ #or the i:en %i$ea$e. I# the /arent i$ ho"o7you$5 there i$ a 1,,4!han!e Choi!e A2 o# tran$"i$$ion.Choi!e D2 Auto$o"al re!e$$i:e %i$ea$e$ o!!ur 0hen the in%i:i%ual inherit$ t0o!o/ie$ o# the "utate% ene one #ro" ea!h /arent2. I# &oth /arent$ are !arrier$1there i$ a +4 !han!e that the !hil% 0ill &e a##e!te%.

E%u!ational O&


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A. 'a"ilial hy/er!hole$terole"ia. ;y/ertro/hi! !ar%io"yo/athyC. Dia&ete$ "ellitu$5 ty/e D. Pe/ti! ul!er %i$ea$eE. Poly!y$ti! ki%ney %i$ea$e'. Al7hei"er %e"entia

Explanation:

Al7hei"er %i$ea$e ha$ a $tron eneti! /re%i$/o$ition. A&out H,4 o# /atient$ ha:e a#a"ily hi$tory o# the %i$ea$e. A!!or%in to ae 0hen $y"/to"$ &ein1 Al7hei"er%i$ea$e !an &e !la$$i#ie% a$ early or late. The #ollo0in three "utation $ite$ ha:e&een a$$o!iate% 0ith early9on $et #a"ilial Al7hei"er %i$ea$e on$et , year$ ol%2=

1. A"yloi% /re!ur$or /rotein APP2 ene on !hro"o$o"e 1. Pre$enilin 1 ene on !hro"o$o"e 1>H. Pre$enilin ene on !hro"o$o"e 1

oth APP an% /re$enilin ene "utation$ are thouht to /ro"ote the /ro%u!tion o# AH9a"yloi%.Late9on $et #a"ilial Al7hei"er %i$ea$e i$ a$$o!iate% 0ith the E> allele o#A/oli/o/rotein E. The e)a!t "e!hani$" o# it$ in#luen!e i$ not kno0n. It i$ thouhtthat the A/oE> /rotein "ay&e in:ol:e% in the #or"ation o# $enile /la6ue$.Choi!e A2 'a"ilial hy/er!hole$terole"ia i$ an auto$o"al %o"inant %i$or%er. It i$a$$o!iate% 0ith a %e#e!t in lo0 %en$ity li/o/rotein LDL2 re!e/tor$. Thi$ %e#e!t lea%$to %e!rea$e% he/ati! LDL u/take an% $e:ere ele:ation in total !hole$terol an% LDLle:el$.Choi!e 2 ;y/ertro/hi! !ar%io"yo/athy i$ a #a"ilial %i$or%er inherite% a$ anauto$o"al %o"inant trait. The "o$t !o""on "utation i$ o# the H9"yo$in hea:y!hain.Choi!e C2 Geneti! #a!tor$ /lay an i"/ortant role in %ia&ete$ "ellitu$ ty/e "orei"/ortant than in ty/e 12. Geneti! /re%i$/o$ition to in!rea$e% in$ulin re$i$tan!e an%%erane% in$ulin $e!retion &y 1H9!ell$ are i"/ortant /re!ur$or$ to %i$ea$e.Choi!e D2 Pe/ti! ul!er %i$ea$e i$ $tronly a$$o!iate% 0ith ;. /ylon in#e!tion5 &ut notA/o'>.

Choi!e E2 Poly!y$ti! ki%ney %i$ea$e !an &e inherite% a$ auto$o"al re!e$$i:e al$o!alle% in#antile #or"2 or %o"inant trait a%ult #or"2. Neither o# the$e !on%ition$ i$a$$o!iate% 0ith A/o'>.

E%u!ational O&


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Whi!h o# the #ollo0in "ay &e i"/aire% in thi$ /atientKA. Eo$ino/hil9"e%iate% !ytoto)i!ity. CD- T ly"/ho!yte9"e%iate% !ytoto)i!ityC. a!terial killin &y neutro/hil$D. Me"&rane atta!k !o"/le) #or"ationE. IA /ro%u!tion

Explanation:The a&o:e /i!ture $ho0$ a Giar%ia la"&lia tro/ho7oite. Giar%ia i$ /ear9$ha/e%5

&ilaterally $y""etri! orani$"$ 0ith #our /air$ o# #laella an% t0o nu!lei. Se!retoryIA hel/$ /re:ent an% !lear in#e!tion &y &in%in to tro/ho7oite$ an% i"/airin theira%heren!e to the u//er $"all &o0el "u!o$a. Patient$ %e#i!ient in IA anti&o%ie$aain$t $/e!i#i! Giar%ia antien$ are /rone to !hroni! iar%ia$i$. Chil%ren 0ith ?9linke% aa""alo&uline"ia an% /atient$ 0ith !o""on :aria&le i""une %e#i!ien!yha:e a %o!u"ente% /re%i$/o$ition to iar%ia$i$. The$e /atient$ al$o ten% to ha:e a/rolone% %i$ea$e !our$e 0ith %iarrhea "ala&$or/tion :illu$ #lattenin !ry/thy/ertro/hy5 an% %en$e $u&"u!o$al "ononu!lear !ell in#iltrate$ on $"all &o0el&io/$y.Choi!e A2 Eo$ino/hil9"e%iate% !>oto)i!it$I i$ not in:ol:e% in the %e#en$e aain$tGiar%ia. Rather5 thi$ "e!hani$" i$ i"/ortant in !o"&atin hel"inthi! in#e!tion$.Eo$ino/hil$ %a"ae hel"inth lar:ae :ia an anti&o%y %e/en%ent !ellular !ytoto)i!ityADCC2 "e!hani$" /o$$i&ly in:ol:in "a


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A. Short$tature5 &roa% !he$t5 an% a"enorrhea. Tall $tature5 yne!o"a$tia5 in#ertilityC. Ma!roor!hi%i$"5 lare


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A. Pi!k &o%ie$. Neuro#i&rillary tanle$C. Le0y &o%ie$D. S/oni#or" tran$#or"ationE. Neri &o%ie$'. P$a""ona &o%ie$

Explanation:

Do0n $yn%ro"e tri$o"y 12 i$ the "o$t !o""on !hro"o$o"al ano"aly. Ty/i!al$y"/to"$ are "ental retar%ation an% B"onoloi% a//earan!e. Chara!teri$ti! #a!ial#eature$ in!lu%e #lat #a!ie$5 e/i!anthi! #ol%$ an% o&li6ue /al/e&ral #i$$ure$. Patient$

0ith Do0n $yn%ro"e are un#ortunately "ore /rone to a nu"&er o# "e%i!al/ro&le"$.'or in$tan!e5 /atient$ 0ith Do0n $yn%ro"e ha:e an in!rea$e% ri$k o# early9on$etAl7hei"er %i$ea$e. eyon% >,5 the$e /atient$ in:aria&ly %e:elo/ $enile /la6ue$ an%neuro #i&rillary tanle$. The a$$o!iation o# Do0n $yn%ro"e an% Al7hei"er %i$ea$e"ay&e e)/laine% &y the #a!t that the APP ene i$ lo!ate% on !hro"o$o"e 15Clea:ae o# APP a"yloi% /re!ur$or /rotein2 #or"$ A 89a"yloi%5 0hi!h i$ the$u&$tan!e that a!!u"ulate$ in &rain ti$$ue an% :e$$el 0all$. Tri$o"y o# 1 entail$that three !o/ie$ o# the APP ene are /re$ent. More APP i$ there#ore /ro%u!e% inDo0n $yn%ro"e5 #a!ilitatin a!!elerate% a!!u"ulation o# a"yloi% an% Al7hei"er9like!hane$.Other !on%ition$ a$$o!iate% 0ith Do0n $yn%ro"e in!lu%e=1. A!ute leuke"ia$= &oth AML an% ALL.. Conenital heart %i$ea$e= en%o!ar%ial !u$hion %e#e!t$5 SDI ASD.H. Ga$trointe$tinal %e#e!t$= %uo%enal atre$ia an% ;ir$!h$/run %i$ea$e.Choi!e A2 Pi!k &o%ie$ are eo$ino/hili!5 intra!yto/la$"i! in!lu$ion$ #oun% in the!orti!al neuron$ in Pi!k %i$ea$e. Do0n $yn%ro"e i$ not a$$o!iate% 0ith in!rea$e%ri$k o# Pi!k %i$ea$e.Choi!e C2 Le0y &o%ie$ are roun%5 eo$ino/hili!5 intra!yto/la$"i! in!lu$ion$ that!ontain neuro#ila"ent$. They are $een in the neuron$ o# $u&$tantia nira inParkin$on %i$ea$e.

Choi!e D2 S/oni#or" tran$#or"ation i$ !hara!teri$ti! o# Creut7#el%t9Va!o& %i$ea$e50hi!h "ani#e$t$ &y ra/i%ly /rore$$i:e %e"entia an% "yo!loni! ,.

208

Q NO 40: A H9year9ol% "ale 0ith Do0n $yn%ro"e e)/erien!e$ $ini#i!ant !oniti:e%e!line5 "akin hi" totally %e/en%ant on a !arei:er #or hi$ &a$i! %aily a!ti:itie$.Corti!al neuron$ in thi$ /atient are "o$t likely to %e"on$trate 0hi!h o# the#ollo0inK


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A. artaener $yn%ro"e. Tu&erou$ $!lero$i$C. DiGeore $yn%ro"eD. 'rie%rei!h($ ata)iaE. Mar#an $yn%ro"e'. Do0n $yn%ro"eG. Turner($ $yn%ro"e

Explanation:Di"ini$he% #e"oral /ul$e$ !o"/are% to &ra!hial /ul$e$5 $y"/to"$ o# ina%e6uate/er#u$ion o# the lo0er e)tre"itie$ %urin a"&ulation5 an% enlare% inter!o$talarterie$ in a !hil%Fyoun a%ult are !hara!teri$ti! o# a%ult9ty/e !onenital !oar!tationo# the aorta. Turner $yn%ro"e an ?O $e) !hro"o$o"e %i$or%er2 i$ a$$o!iate% 0ith

!oar!tation o# the aorta in irl$.Choi!e A2 In artaener $yn%ro"e5 !ilia are i""otile %ue to a "i!rotu&ular %yneinar" %e#e!t. In#ertility5 re!urrent $inu$iti$5 an% &ron!hie!ta$i$ re$ult. Thi$ $yn%ro"e i$a$$o!iate% 0ith $itu$ in:er$u$5 &ut i$ not kno0n to &e a$$o!iate% 0ith aorti!!oar!tation.Choi!e 2 Tu&erou$ $!lero$i$ i$ an auto$o"al %o"inant $yn%ro"e !hara!teri7e% &y!utaneou$ anio#i&ro"a$ a%eno"a $e&a!eu"25 $ei7ure$5 an% "ental retar%ation.Patholoi!al le$ion$ in!lu%e !entral ner:ou$ $y$te" ha"arto"a$ an% &eninneo/la$"$5 renal an% other :i$!eral !y$t$5 a :ariety o# other ha"arto"a$5 an%!ar%ia! rha&%o"yo"a$.Choi!e C2 DiGeore $yn%ro"e i$ a$$o!iate% 0ith at lea$t 1+4 o# !a$e$ o#interru/te% aorti! ar!h5 a "ore e)tre"e ano"aly than aorti! !oar!tation in 0hi!h theaorti! ar!h i$ atreti! ora $e"ent o# the ar!h i$ a&$ent. In a%%ition to /oor lo0ere)tre"ity /ul$e$ re$/iratory %i$tre$$ :aria&le !yano$i$ an% $in$ o# !one$ti:e heart#ailure %e:elo/ %urin the #ir$t %ay$ o# li#e.Choi!e D2 'rie%rei!h($ ata)ia i$ "arke% &y $/ino!ere&ellar %eeneration 0ith/re%o"inantly $/inal ata)ia. Thi$ !an /ro%u!e %i##i!ulty 0alkin5 &ut #e"oral /ul$e$are not a##e!te%. Thi$ auto$o"al re!e$$i:e !on%ition i$ a$$o!iate% 0ith hy/ertro/hi!!ar%io"yo/athy.Choi!e E2 Mar#an $yn%ro"e i$ a$$o!iate% 0ith !y$ti! "e%ial ne!ro$i$ o# the !o%e50hi!h "ay re$ult in %i$$e!tin aorti! aneury$"$ an% aorti! :al:e in!o"/eten!e.

Mitral :al:e /rola/$e "ay al$o re$ult.Choi!e '2 Do0n $yn%ro"e i$ a$$o!iate% 0ith en%o!ar%ial !u$hion %e#e!t$ that re$ultin o$tiu" /ri"u" atrial $e/tal %e#e!t$ ASD2 an% reuritant atrio:entri!ular :al:e$.

E%u!ational O&


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DiGeore $yn%ro"e= tetraloy o# 'allot an% interru/te% aorti! ar!h 'rie%rei!h($ ata)ia= hy/ertro/hi! !ar%io"yo/athy Mar#an $yn%ro"e= !y$ti! "e%ial ne!ro$i$ o# the aorta Tu&erou$ $!lero$i$= :al:ular o&$tru!tion %ue to !ar%ia! rha&%o"yo"a$

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Thi$ /atient i$ "o$t likely to &e $u##erin #ro" 0hi!h o# the #ollo0in !on%ition$K

A. ;e"o/hilia . ;untinton($ %i$ea$eC. Cla$$i!al ala!to$e"iaD. Le$!h9Nyhan $yn%ro"eE. Le&er here%itary o/ti! neuro/athy

Explanation:

Ea!h o# the a##e!te% in%i:i%ual$ on thi$ /e%iree ha$ inherite% the %i$or%er #ro"a$y"/to"ati! /arent$5 !on$i$tent 0ith an auto$o"al re!e$$i:e inheritan!e /attern.Cla$$i!al ala!to$e"ia i$ an auto$o"al re!e$$i:e %i$ea$e. Patient$ 0ith ala!to$e"iaare ho"o7you$ #or a %e#e!ti:e ala!to$e919/ho$/hate uri%yltran$#era$e ene. Ineneral5 "o$t en7y"e %e#i!ien!y !on%ition$ #ollo0 an auto$o"al re!e$$i:einheritan!e /attern5 0herea$ %i$ea$e$ %ue to %e#e!ti:e non9!atalyti! /rotein$ ten% to#ollo0 an auto$o"al %o"inant /attern.Choi!e A2 ;e"o/hilia i$ an ?9linke% re!e$$i:e 'a!tor I? %e#i!ien!y that a##e!t$

"ale$.Choi!e 2 ;untinton($ %i$ea$e i$ inherite% in an auto$o"al %o"inant #a$hion.A##e!te% in%i:i%ual$ enerally ha:e one a##e!te% /arent. In thi$ !on%ition5 there i$%eeneration o# the $triatu" "ainly the !au%ate nu!leu$ an% /uta"en2.Choi!e D2 Le$!h9Nyhan $yn%ro"e i$ an ?9linke% re!e$$i:e %e#i!ien!y o#hy/o)anthine /ho$/hori&o$yltran$#era$e5 the en7y"e that /ro"ote$ !on:er$ion o#hy/o)anthine to IMP an% uanine to GMP /urine $al:ae2.Choi!e E2 Le&er here%itary o/ti! neuro/athy #ollo0$ a "ito!hon%rial inheritan!e/attern.

E%u!ational O&


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The /atient i$ "o$t likely to $u##er #ro" 0hi!h o# the #ollo0in !on%ition$K

A. I""otile !ilia. Ma!roor!hi%i$"C. Ri!ket$D. Re% &loo% !ell $i!klinE. A!ute ly"/ho&la$ti! leuke"ia'. Chroni! "yeloenou$ leuke"ia

Explanation:Thi$ karyoty/e $ho0$ tri$o"y 1 >3??5 12 in%i!atin a %iano$i$ o# Do0n$yn%ro"e5 the "o$t !o""on !au$e o# !onenital "ental retar%ation. In "o$t !a$e$5Do0n $yn%ro"e re$ult$ #ro" "eioti! non%i$


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Choi!e 2 Ma!roor!hi%i$" lare te$te$2 ty/i!ally %e:elo/$ in /u&ertal "ale$ 0ith#raile ? $yn%ro"e5 the $e!on% "o$t !o""on eneti! !au$e o# "ental retar%ation.On karyoty/e analy$i$ o# !ell$ !ulture% in a #olate9%e#i!ient "e%iu"5 thi$ ?9linke%%i$or%er $ho0$ a %i$!ontinuity o# $tainin on the lon ar" o# the ? !hro"o$o"e.Choi!e C2 Ri!ket$ i$ not a$$o!iate% 0ith Do0n $yn%ro"e.Choi!e D2 Re% &loo% !ell $i!klin o!!ur$ in $i!kle !ell ane"ia. The $i!kle !ell"utation i$ lo!ali7e% to in%i:i%ual 89 lo&in ene$ an% %oe$ not re$ult #ro" tri$o"y1.Choi!e '2 Chroni! "yeloenou$ leuke"ia CML2 i$ a$$o!iate% 0ith the Phila%el/hia!hro"o$o"e re!i/ro!al tran$lo!ation &et0een the lon ar"$ o# !hro"o$o"e$ J an%. Thi$ tran$lo!ation #u$e$ the CR ene o# !hro"o$o"e to the AL ene o#!hro"o$o"e J. aryoty/e analy$i$ "iht $ho0 elonation o# the lon ar" o# one!hro"o$o"e J.

E%u!ational O&, ti"e$ "ore likely to %e:elo/ ALL than the eneral /o/ulation.

213


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A. Near ,. 1FC. 1F>D. 1F-E. 1F1'. 1FH

Explanation:The "ale /atient %e$!ri&e% a&o:e ha$ a hi$tory o# e)!e$$i:e &lee%in an%he"arthro$e$5 $ue$tin a %iano$i$ o# he"o/hilia A or 5 &oth ?9linke% re!e$$i:e

!oaulation #a!tor %e#i!ien!ie$. The /ro&a&ility that hi$ $i$ter 0ill i:e &irth to ana##e!te% !hil% !an &e !al!ulate% a$ #ollo0$= Pro&a&ility /12 that $i$ter i$ a !arrier ,.+ P that $i$ter 0ill ha:e a "ale !hil% ,.+ PH that o##$/rin o# #e"ale !arrier 0ill inherit the ? !hro"o$o"e 0ith thehe"o/hilia ene ,.+

The /ro&a&ility that the $i$ter 0ill ha:e an a##e!te% $on i$ thu$ the /ro&a&ility that allthree o# the a&o:e e:ent$ take /la!e. i.e. the /ro%u!t o# their in%i:i%ual /ro&a&ilitie$5/1 ) / ) /H 1F ) 1F ) 1F 1Fe.

E%u!ational O&9year9ol% "ale e)/erien!e$ $e:ere /rolone% &lee%in a#ter ha:in atooth e)tra!te%. ;e al$o ha$ a hi$tory o# "ulti/le e/i$o%e$ o# /ain#ul


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A. line#elter $yn%ro"e. Turner $yn%ro"eC. 19hy%ro)6la$e %e#i!ien!yD. >3 ??? karyoty/eE. Mar#an $yn%ro"e'. Mullerian aene$i$G. all"ann $yn%ro"e

Explanation:

In the $e)ually un%i##erentiate% e"&ryo 0eek$ o# e$tation21 t0o /air$ o#

enital %u!t$ are /re$ent= the /ara"e$one/hri! Mullerian2 %u!t$ an% the"e$one/hri! Wol##ian2 %u!t$.In the #e"ale #etu$5 the Mullerian %u!t$ i:e ri$e to #allo/ian tu&e$5 uteru$1 !er:i)5an% u//er :aina5 0hile the Wol##ian %u!t$ %eenerate #ro" the la!k o# hor"onal$ti"ulation. A&nor"al tran$#or"ation o# the Mullerian %u!t$ into the #e"ale enitaliare$ult$ in a 0i%e rane o# %e#e!t$ that in!lu%e &ut are not li"ite% to2 the #ollo0in=hy/o/la$ia or aene$i$ o# the :aina an% uteru$ %u/li!ation o# the :aina1 !er:i)an% uteru$ an% uni!ornuate5 &i!ornuate an% $e/tate uteru$.e!au$e the /atient /re$ente% here ha$ #ully %e:elo/e% $e!on%ary $e)ual!hara!teri$ti!$5 nor"al le:el$ o# e$troen$ an% ona%otro/in$ are to &e e)/e!te%.When "en$e$ are a&$ent in the !onte)t o# nor"ally #un!tionin o:arie$ an% anor"ally #un!tionin anterior /ituitary lan%5 the !on%ition i$ !on$i%ere% to &eeuona%otro/i! a"enorrhea. The t0o "o$t !o""on !au$e$ o# /ri"aryeuona%otro/i! a"enorrhea are i"/er#orate hy"en or Mullerian %u!t ano"alie$. Thelatter !on%ition i$ the "ore likely !au$e o# thi$ /atient($ uterine hy/o/la$ia.Choi!e A2 line#elter $yn%ro"e karyoty/e >3 ??@2 a##e!t$ "ale$ an% i$!hara!teri7e% &y tall $tature5 /oorly %e:elo/e% $e!on%ary $e)ual !hara!teri$ti!$5atro/hi! te$te$ an% in#ertility.Choi!e 2 Turner $yn%ro"e karyoty/e >+?O2 i$ a !o""on !au$e o# /ri"arya"enorrhea. A##e!te% in%i:i%ual$ ha:e $hort $tature5 0e&&e% ne!k5 $hiel%e% !he$tan% B$treake% #i&roti!2 o:arie$. They %o not %e:elo/ $e!on%ary $e)ual

!hara!teri$ti!$.Choi!e C2 19hy%ro)yla$e %e#i!ien!y :arie$ in $e:erity an% "ay "ani#e$t inneonate$ or later in li#e e:en in youn a%ult$2. A%ult9on$et 19hy%ro)yla$e%e#i!ien!y "ay /re$ent a$ a"enorrhea5 hir$uti$" an% :irili7ation. ;y/onatre"ia an%hy/erkale"ia are !hara!teri$ti! #in%in$.Choi!e D2 The >3 ??? karyoty/e i$ not a$$o!iate% 0ith a"enorrhea5 thouh $o"ea##e!te% in%i:i%ual$ "ay ha:e $lihtly %e!rea$e% 1, $!ore$.Choi!e E2 Mar#an $yn%ro"e i$ not a$$o!iate% 0ith a"enorrhea.Choi!e G2 all"ann $yn%ro"e o!!ur$ %ue to %i"ini$he% $ynthe$i$ o# ona%otro/i!hor"one$ &y the anterior /ituitary lan%. The !on%ition /re$ent$ 0ith /ri"arya"enorrhea5 a&$ent $e!on%ary $e)ual !hara!teri$ti!$5 an% an ol#a!tory $en$ory%e#e!t.

215

Q NO 45: A 19year9ol% Cau!a$ian #e"ale /re$ent$ to your o##i!e 0ith a"enorrhea.She ha$ ne:er ha% "en$e$. She i$ 13+ !" tall5 0eih$ + k 1>H l&2 an% ha$ #ully%e:elo/e% $e!on%ary $e)ual !hara!teri$ti!$. Pel:i! e)a"ination re:eal$ a $hortene%:ainal !anal 0ith a ru%i"entary uteru$. Whi!h o# the #ollo0in i$ the "o$t likely%iano$i$ in thi$ /atientK


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E%u!ational O&


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A.

line#elter $yn%ro"e. Turner $yn%ro"eC. >3 ?@@ karyoty/eD. >3 ??? karyoty/eE. Te$ti!ular #e"ini7ation $yn%ro"e'. MXllerian aene$i$G. Mar#an $yn%ro"e;. 'raile ? $yn%ro"e

Explanation:

Thi$ /atient %i$/lay$ the !lini!al #eature$ o# #raile ? $yn%ro"e5 0hi!h i$ the "o$t!o""on !au$e o# inherite% "ental retar%ation an% the $e!on% lea%in o:erall !au$eo# !onenital "ental retar%ation a#ter Do0n $yn%ro"e. A "ale that inherit$ one

a&nor"al ? !hro"o$o"e 0ill al0ay$ %e:elo/ the %i$ea$e5 a$ he ha$ only one ?!hro"o$o"e. A #e"ale 0ith one a&nor"al ? !hro"o$o"e enerally ha$ a "il%er!lini!al /re$entation an% "ore nor"al !oniti:e %e:elo/"ent &e!au$e $he inherit$t0o ? !hro"o$o"e$5 0ith one o# the t0o ran%o"ly ina!ti:ate% in e:ery !ell. O:erallthe /rono$i$ o# #e"ale$ 0ith #raile ? i$ hihly :aria&le an% !annot &e a!!urately/re%i!te%.Male$ 0ith #raile ? $yn%ro"e ty/i!ally %e"on$trate$ $e:eral o# the #ollo0in $in$=1. Mil%9to9"o%erate "ental retar%ation 1, o# >,9-+25 $/ee!h an% lanuae %elay5auti$ti! &eha:ior an% AD;D. Lon #a!e5 /ro"inent 12,@2 "ay &e a$$o!iate% 0ith "il% "entalretar%ation or nor"al intellien!e. The ty/i!al /atient i$ a tall "ale 0ithyne!o"a$tia5 $"all te$te$5 an% in#ertility.Choi!e 2 'e"ale$ 0ith Turner $yn%ro"e >+?O2 /re$ent 0ith /ri"ary a"enorrheaan% "il% "ental retar%ation5 thouh nor"al !oniti:e #un!tion i$ al$o /o$$i&le. Thety/i!al /atient ha$ $hort $tature5 0e&&e% ne!k5 $hiel%e% !he$t an% o:arian%y$ene$i$.

Choi!e C2 The >3?@@ karyoty/e i$ !hara!teri7e% &y tall $tature5 $e:ere a!ne5 an%"il% %elay$ in &oth "otor an% lanuae %e:elo/"ent. Early re$ear!h $ue$te% thatthe$e in%i:i%ual$ 0ere /rone to heihtene% are$$ion a$ 0ell5 &ut "ore re!ent$tu%ie$ $ue$t the in!rea$e in !ri"inal a!ti:ity a"on the >1 ?@@ /o/ulation$ i$a!tually $e!on%ary to lo0er "ean IQ$ an% a$$o!iate% /oor


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Choi!e G2 Mar#an $yn%ro"e i$ !hara!teri7e% &y tall $tature5 ara!hno%a!tyly lonan% thin #iner$25 e!to/ia lenti$ len$ %i$/la!e"ent25 an% %ilatation o# the /ro)i"alaorta. Mental retar%ation #a!ial %e#or"itie$ an% "a!roor!hi%i$" are not $een.

E%u!ational O&


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A. Geneti! i"/rintin. ;etero/la$"yC. Anti!i/ationD. Lo0 e)/re$$ion :aria&ilityE. 'e"ale $/arinExplanation:

Mito!hon%ria ha:e a $"all a"ount o# their o0n DNA5 !alle% "ito!hon%rial DNA"tDNA25 0hi!h !an ha:e %eletion$ an% /oint "utation$


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A. Rea$$ort"ent. Re!o"&inationC. Tran$#or"ationD. Phenoty/i! "i)inE. Inter#eren!e

Explanation:

Thi$ $!enario %e$!ri&e$ the e)!hane o# eneti! in#or"ation &et0een t0o :iru$$train$ that ha:e non9#ra"ente%5 %ou&le9$tran%e% DNA eno"e$. Su!h ane)!hane a"ount$ to re!o"&ination5 0hi!h "ay &e %e#ine% a$ the e)!hane o#

ene$ &et0een t0o !hro"o$o"e$ :ia !ro$$in o:er 0ithin ho"oloou$ reion$. There$ultin /roeny 0ill ha:e trait$ not /re$ent $i"ultaneou$ly in either /arent :iru$.Choi!e A2 Rea$$ort"ent re#er$ to !hane$ in eno"i! !o"/o$ition that o!!ur 0henho$t !ell$ are !o9in#e!te% 0ith t0o $e"ente% :iru$e$ that e)!hane 0hole eno"e$e"ent$. Thi$ /ro!e$$ !an !au$e $u%%en alteration$ in the $ur#a!e antien$ o# the:iral /roeny5 a$ o&$er:e% 0ith the hihly "utaeni! in#luen7a :iru$. e!au$e thea%eno:iru$ eno"e !ontain$ non9$e"ente%5 %ou&le9$tran%e% DNA5 it %oe$ notenae in rea$$ort"ent.Choi!e C2 Tran$#or"ation i$ enerally %e#ine% a$ the u/take o# nake% DNA &y a/rokaryoti! or eukaryoti! !ell. In :iroloy thi$ ter" "ay al$o &e u$e% to %e$!ri&e thein!or/oration o# :iral DNA into a ho$t !ell !hro"o$o"e. Tran$#or"ation alter$ theeneti! !o"/o$ition o# the ho$t !ell &ut ty/i!ally !au$e$ no eno"i! !hane in/roeny :irion$.Choi!e D2 Phenoty/i! "i)in re#er$ to !o9in#e!tion o# a ho$t !ell &y t0o :iral $train$5re$ultin in /roeny :irion that !ontain$ nu!leo!a/$i% /rotein$ #ro" one $train an%the eno"e o# the other $train. In thi$ !a$e5 $in!e neither :irion $train 0a$!yto/athi! e:en thouh &oth $train$ !oul% a//arently in$ert their eno"e$ into theho$t !ell line2. Rearrane"ent o# the !a/$i% /rotein$ aroun% either un!hane%eno"e 0oul% not &e e)/e!te% to !on#er ne0 !yto/athi! :irulen!e to the /roeny:irion$.Choi!e E2 Inter#eren!e i$ the inhi&ition &y one :iru$ o# the re/li!ation an%For relea$e

o# a $e!on% :iru$ that i$ in#e!tin the $a"e !ell. Si"/le inter#eren!e 0oul% not re$ultin re!o"&inant /roeny :irion$.

E%u!ational O&


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A.

Cle#t /alate. Poly%a!tylyC. Sinle /al"ar !rea$eD. Ro!ker9&otto" #eetE. Ma!ro!e/haly'. Ma!roor!hi%i$"

Explanation:

Do0n $yn%ro"e i$ the "o$t !o""on auto$o"al tri$o"y i%enti#ie% in li:e&ornin#ant$. A$ "any a$ J+4 o# Do0n $yn%ro"e !a$e$ ari$e %ue to !hro"o$o"alnon%i$3 ??5 12 an a&nor"ality that /o$iti:ely!orrelate$ 0ith in!rea$in "aternal ae. T0o o# the "ore /ro"inent an% !on$i$tentle!ture$ o# Do0n $yn%ro"e are "ental retar%ation an% #a!ial %y$"or/hi$". Al"o$t

e:ery oran an% $y$te"5 ho0e:er5 i$ a##e!te%. The !hara!teri$ti! Do0n $yn%ro"ea&nor"alitie$ are !ateori7e% &y $y$te" &elo0.

Choi!e A2 Cle#t /alate i$ a$$o!iate% 0ith tri$o"y 1H Patau $yn%ro"e2.Choi!e 2 Poly%a!tyli$" a$$o!iate% 0ith tri$o"y 1H Patau $yn%ro"e2.Choi!e D2 Ro!ker9&otto" #eet are a$$o!iate% 0ith &oth tri$o"y 1H Patau$yn%ro"e2 an% tri$o"y 1- E%0ar%$ $yn%ro"e2.Choi!e E2 Ma!ro!e/haly i$ not a ty/i!al !lini!al #eature o# the "ore !o""on!hro"o$o"al $yn%ro"e$.Choi!e '2 Ma!roor!hi%i$" i$ a$$o!iate% 0ith #raile ? $yn%ro"e. A##e!te% in%i:i%ual$al$o ha:e tall $tature5 lare ear$5 lon #a!e5 an% "ental retar%ation.E%u!ational O&


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Thi$ !on%ition #ollo0$ 0hi!h inheritan!e /atternK

A. Auto$o"al %o"inant. Auto$o"al re!e$$i:e

C. ?9linke% %o"inantD. ?9linke% re!e$$i:eE. Mito!hon%rial

Explanation:Thi$ /e%iree $ho0$ that only "ale$ are a##e!te% &y thi$ %ru intoleran!e.S/e!i#i!ally5 "ale o##$/rin o# una##e!te% /arent$ are a##e!te%. There i$ no e:i%en!eo# "ale9to9"ale tran$"i$$ion. Thi$ /attern i$ "o$t !on$i$tent 0ith ? linke% re!e$$i:einheritan!e #ro" a$y"/to"ati! hetero7you$ !arrier2 #e"ale$. GPD %e#i!ien!y50hi!h !au$e$ an a!ute he"olyti! ane"ia in rea!tion to o)i%ant %ru$5 #ollo0$ an ?9linke% re!e$$i:e /attern o# inheritan!e.Auto$o"al %o"inant inheritan!e re6uire$ that at lea$t one /arent o# the a##e!te%in%i:i%ual e)/re$$ the trait a$ 0ell. In auto$o"al re!e$$i:e inheritan!e. +4 o#o##$/rin o# una##e!te% hetero7you$ !arrier2 /arent$ 0ill &ear the trait. In ? linke%%o"inant inheritan!e5 at lea$t one /arent o# either $e)2 i$ a##e!te% an% all #e"aleo##$/rin o# a##e!te% "ale$ ha:e the %i$ea$e. 'inally5 !on%ition$ 0ith "ito!hon%rialinheritan!e are tran$"itte% only &y the "other5 an% all o##$/rin o# a##e!te% #e"ale$are likely to $ho0 $in$ o# %i$ea$e.

E%u!ational O&

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