Combined partial trisomy 3p monosomy 5p resulting in sonographic abnormalities

被引：0
作者：
Entezami, M
Coumbos, A
Runkel, S
Vogel, M
Wegner, R
机构：
[1] FREE UNIV BERLIN,DEPT GYNECOL,MED CTR BENJAMIN FRANKLIN,D-1000 BERLIN,GERMANY
[2] HUMBOLDT UNIV BERLIN,MED CTR RUDOLF VIRCHOW,INST PEDIAT PATHOL,BERLIN,GERMANY
[3] HUMBOLDT UNIV BERLIN,MED CTR RUDOLF VIRCHOW,INST HUMAN GENET,BERLIN,GERMANY
来源：
CLINICAL GENETICS | 1997年 / 52卷 / 02期
关键词：
cri-du-chat syndrome; familial translocation; partial monosomy 5; partial trisomy 3; polyhydramnios; prenatal diagnosis; single umbilical artery;
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 here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3:5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum.
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页码：96 / 99
页数：4
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