A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation

被引：5

作者：

Ahmed, AA ^{[1
]}

Gilbert-Barness, E ^{[1
]}

机构：

[1] Tampa Gen Hosp, Dept Pathol, Tampa, FL 33601 USA

来源：

CLINICAL DYSMORPHOLOGY | 2004年 / 13卷 / 02期

关键词：

Fryns syndrome; chromosome; 1; diaphragmatic hernia;

D O I：

10.1097/00019605-200404000-00012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a case of Fryns syndrome-like phenotype with chromosomal translocation. Not all such cases have chromosomal abnormalities hence we suggest that this condition is associated with genetic heterogeneity and variable clinical manifestations.

引用

页码：111 / 112

页数：2

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