High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation

被引：0
|
作者：
Guichet, A [1 ]
Briault, S [1 ]
Moraine, C [1 ]
机构：
[1] Hop Bretonneau, Serv Genet, F-37044 Tours, France
来源：
PRENATAL DIAGNOSIS | 1998年 / 18卷 / 04期
关键词：
prenatal diagnosis; high resolution cytogenetics; fluorescent in situ hybridization (FISH) with YACs; cryptic 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 report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that the father had a subtle translocation between chromosome 5 and chromosome 13, 46, XY, t(5;13) (q35.2;q34). Two specific, non-routine techniques were associated for prenatal diagnosis: high resolution cytogenetic studies on the amniotic fluid and fluorescent in situ hybridization with YACs as specific telomeric probes. The fetus had the same cryptic translocation as his father. (C) 1998 John Wiley & Sons, Ltd.
引用
收藏
页码：399 / 403
页数：5
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