INTERSTITIAL DELETION AND RING CHROMOSOME DERIVED FROM 19Q - PROXIMAL 19Q TRISOMY PHENOTYPE

被引：0

作者：

QUACK, B

VANROY, N

VERSCHRAEGENSPAE, MR

KLEIN, F

机构：

[1] DEPT MED GENET,B-9000 GHENT,BELGIUM

[2] HOP ST CROIX,SERV PEDIAT,F-57000 METZ,FRANCE

来源：

ANNALES DE GENETIQUE | 1992年 / 35卷 / 04期

关键词：

PARTIAL TRISOMY 19Q; RING CHROMOSOME-19; LATENT CENTROMERE; FLUORESCENCE INSITU HYBRIDIZATION;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A small supernumerary ring chromosome has been found in a boy with overweight, dysmorphic facies and mental retardation. His mother had an interstitial deletion of the long arm of chromosome 19 and the same ring chromosome. By means of fluorescence in situ hybridization the ring chromosome was shown to be derived from the deleted chromosome, after the occurence of two breaks : one in the centromere region, the other in the q-arm of chromosome 19.

引用

页码：241 / 244

页数：4

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