213 Patau 47, XX (XY) , +13-------------------80% 13-----20%46 / 47+13t (13q14q) t (13q13q)
21 18133535 18
XYY19 61Sandberg47 XYY1/5001/3 00047XYY47XYYYYY
19 65XYYXYY420420Y19658XYYY
1968XYYXYY
2DXX
A
hypercholesterolaemia
519p13.2p13.1
Marfans syndrome
60801.96m
2Marfan
15q14-q21, FBN1110kb,65
Normal BodyMarfan Syndrome
autosoml recessive inheritabledisease1/4
1cystic fibrosis,CF (AR)
2(progeny)
6
5 79110
3II(Grebe-Quelce-Salgado,Grebe,),,()
phenykelonuria
PAH12q2212q24.2
alkaplonuria
albinism
sex limited inheritable disease
sex influential inheritable disease
XX
AX
B
BX
3(+)
1/10001/21/4
601/21.7/10007640.001740.70.3
50100510
20X
809030X6001/4
2494
1 A. 221 B. 3D C.X 4 D.X 5 E. 6 F. 7 G.
1985
34.7 10.2 80.0140.917.5 283.3
120%-25%21.3%350%421100552
1 633
5~6
kinship coefficient & consanguineous marriage)
,
AA1/2AA1/2 k= 1/2
////AA1/2 x 1/2 = 1/4 k= 1/4
//III1III2I1 i1/4 x 1/4 =1/16III1III2I2i1/4 x 1/4 =1/16I1I21/16+1/16=1/8k = 1/8
(k) = (1/2)
1
1/2
/////
1/4
//
1/8
1/90 0001/4 800
12B345
12
429DNAcompacted DNA (University Hospitals of Cleveland, UHC)(Case Western Reserve UniversityCWRU)Children's Hospital of DenveCystic Fibrosis Foundation Therapeutics12 Copernicus TherapeuticsUHCCWRUCopernicusDNADNADNA CFTRL162004.122331/200030
1886Hutchison Hutchinson-Gilford progeria syndrome Lamin A
7 .
Hutchinson-Gilford progeria syndrome Lamin A FGFR3) ()O(little big man)
