Human Human male male karyotypkaryotype, e, written written

as as 46 46 XYXY

Human Human female female karyotypkaryotype, e, written written

as as 46 46 XXXX

Jacob’s syndromeJacob’s syndrome

XYYNo abnormal

appearance/behaviorfertile

Jacob’s SyndromeJacob’s Syndrome

1 in 1,800 births

47 chromosomesXYY only

47XYY

#23 Trisomy Nondisjunction

Jacob’s SyndromeJacob’s Syndrome

Normal physicallyNormal mentallyIncrease in testosteronePerhaps more aggressiveNormal lifespan

Klinefelter’s SyndromeKlinefelter’s Syndrome

XXY, male

Klinefelter’s SyndromeKlinefelter’s Syndrome

1 in 1,100 births

47 chromosomesXXY only

47, XXY

#23 Trisomy Nondisjunction

Klinefelter’s Klinefelter’s SyndromeSyndrome

Scarce beardLonger fingers and armsSterileDelicate skinLow mental abilityNormal lifespan

Patau Patau syndromesyndrome

47, XX, +13

Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome

1 in 14,000 births

47 chromosomesXY or XX

47, +13

#13 Trisomy Nondisjunction

Small headSmall or missing eyesHeart defectsExtra fingersAbnormal genitaliaMentally retardedCleft palateMost die a few weeks after birth

Patau’s Trisomy Patau’s Trisomy SyndromeSyndrome

Down SyndromeDown Syndrome47, XY, +21

1 in 1,250 births

47 chromosomesXY or XX

#21 Trisomy Nondisjunction

Down Syndrome

Down SyndromeDown Syndrome

Short, broad hands Stubby fingersRough skinImpotency in malesMentally retardedSmall round faceProtruding tongueShort lifespan

Edwards SyndromeEdwards Syndrome

47, XY, +18

Edward’s Trisomy Edward’s Trisomy SyndromeSyndrome

1 in 4,400 births

47 chromosomesXX=80%

XY=20%

#18 Trisomy Nondisjunction

Edward’s Trisomy SyndromeEdward’s Trisomy Syndrome

Small headMentally retardedInternal organ abnormalities90% die before 5 months of age

Turners SyndromeTurners Syndrome

45, X

Turners SyndromeTurners Syndrome

96-98% do not survive to birthNo menstruationNo breast developmentNo hipsBroad shoulders and neck

Trisomy 16, monosomy XTrisomy 16, monosomy X

46, X, +16Not viable beyond 1st

trimester

Trisomy XTrisomy X47 XXX symptoms

1/1000healthy and fertile -

cannot be distinguished from normal female except by karyotype

Robertsonian Translocation Robertsonian Translocation 13-1413-14

Several types, with varying results.

Wolf Hirshhorn SyndromeWolf Hirshhorn Syndrome4p- Very rare. Affected children are small, with microcephaly

and abnormal facies. There are cardiac, renal, and genital abnormalities. Most are stillborn or die in infancy.

Cri-du-chat SyndromeCri-du-chat Syndrome

5p- site

Moon-shaped faceHeart diseaseMentally retardedMalformed larynxNormal lifespan

Aniridia-Wilms Tumor Aniridia-Wilms Tumor SyndromeSyndrome

1 in 50,000,000 births

46 chromosomesXY or XX

#11 Deletion of upper arm

Aniridia-Wilms Tumor SyndromeAniridia-Wilms Tumor Syndrome

Mentally retardedGrowth retardedBlindnessTumors on kidneysShort lifespan

Thirteen Q Deletion Thirteen Q Deletion SyndromeSyndrome

1 in 500,000 births

46 chromosomesXY or XX

#13 Deletion of lower arm

Thirteen Q Deletion SyndromeThirteen Q Deletion Syndrome

Mentally retardedDeformed faceNo thumbsHeart diseaseShort lifespan

Prader-Willi Prader-Willi SyndromeSyndrome

1 in 5,000,000 births

46 chromosomesXY=97% XX=3%

#15 Deletion of lower arm

Prader-Willi SyndromePrader-Willi Syndrome

Small bird-like headMentally retardedRespiratory problemsObesityShort lifespan

Eighteen Q Deletion Eighteen Q Deletion SyndromeSyndrome

1 in 10,000,000 births

46 chromosomesXY or XX

#18 Deletion of lower arm

Eighteen Q Deletion SyndromeEighteen Q Deletion Syndrome

Mentally retardedHeart diseaseAbnormal hands and feetLarge eyesLarge earsNormal lifespan

Cat-Eye SyndromeCat-Eye Syndrome

1 in 1,000,000 births

46 chromosomesXY or XX

#22 Deletion of bottom arm

Cat-Eye SyndromeCat-Eye Syndrome

Fused fingers and toesMentally retardedSmall jawHeart problemsNormal lifespan

Four-Ring SyndromeFour-Ring Syndrome

1 in 10,000,000 births

46 chromosomesXY or XX

#4 Inversion

Four-Ring SyndromeFour-Ring Syndrome

Cleft palateClub feetTestes don’t descendShort lifespan

Triple X SyndromeTriple X Syndrome

1 in 2,500 births

47 chromosomesXXX only

#23 TrisomyNondisjunction

Triple X SyndromeTriple X Syndrome

Normally physically

Normal mentallyFertile