RING-19 MOSAICISM DETECTED DURING PRENATAL-DIAGNOSIS

被引：5

作者：

GILLESSENKAESBACH, G ^{[1
]}

NGO, NTK ^{[1
]}

机构：

[1] MED UNIV LUBECK,INST HUMANGENET,LUBECK,GERMANY

来源：

PRENATAL DIAGNOSIS | 1990年 / 10卷 / 10期

关键词：

Mosaicism; Prenatal diagnosis; Ring chromosome 19;

D O I：

10.1002/pd.1970101009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A ring chromosome 19 was found in 14 of 20 metaphases (67 per cent) derived from amniotic fluid cell cultures following amniocentesis because of increased maternal age. Elective termination of the pregnancy revealed a hypotrophic female fetus with mild dysmorphic signs, but no congenital malformations. The case is discussed in relation to three reports in the literature of ring chromosome 19 mosaicism in a phenotypically normal girl, a mentally retarded man, and a boy with normal psychomotor development and minor dysmorphic features. Copyright © 1990 John Wiley & Sons, Ltd.

引用

页码：683 / 687

页数：5