PRENATAL-DIAGNOSIS OF TRISOMY-9 MOSAIC PRESENTING AS A CASE OF DANDY-WALKER MALFORMATION

被引：17

作者：

BUREAU, YA

FRASER, W

FOUQUET, B

机构：

[1] UNIV LAVAL,HOP ST FRANCOIS ASSISE,DEPT OBSTET & GYNECOL,10 RUE ESPINAY,QUEBEC CITY G1L 3L5,PQ,CANADA

[2] UNIV LAVAL,HOP ST FRANCOIS ASSISE,DEPT PATHOL,QUEBEC CITY G1K 7P4,QUEBEC,CANADA

来源：

PRENATAL DIAGNOSIS | 1993年 / 13卷 / 02期

关键词：

TRISOMY-9; MOSAICISM;

D O I：

10.1002/pd.1970130202

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.

引用

页码：79 / 85

页数：7

共 18 条

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