Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother

被引：0
|
作者：
Fryns, JP [1 ]
Smeets, E [1 ]
Devriendt, K [1 ]
Petit, P [1 ]
机构：
[1] Catholic Univ Louvain, Ctr Human Genet, UZ Gasthuisberg, B-3000 Louvain, Belgium
来源：
ANNALES DE GENETIQUE | 1998年 / 41卷 / 02期
关键词：
chromosome; 4; Wolf-Hirschhorn syndrome; chromosomal mosaicism; jumping translocation;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We present here a 6-year-old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only after FISH studies the suspected 4p16.3 deletion could be confirmed. FISH studies in the mother showed that she was carrier of a balanced/unbalanced mosaicism with a 4p/16p translocation in 60 % of the cells, and 4p16.3 deletion in 40 % of the cells.
引用
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页码：73 / 76
页数：4
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