DIRECT TRANSMISSION OF A TANDEM DUPLICATION IN THE SHORT ARM OF CHROMOSOME-8

被引：0
|
作者：
DHOOGE, C
VANROY, N
CRAEN, M
SPELEMAN, F
机构：
[1] UNIV HOSP GENET,DEPT MED GENET,B-9000 GHENT,BELGIUM
[2] UNIV HOSP GHENT,DEPT PEDIAT,GHENT,BELGIUM
来源：
CLINICAL GENETICS | 1994年 / 45卷 / 01期
关键词：
CHROMOSOME; 8; DUPLICATION; FAMILIAL;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial duplication of an autosomal chromosome segment.
引用
收藏
页码：36 / 39
页数：4
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