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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收藏

页码：96 / 99

页数：4

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