MALE-TO-MALE TRANSMISSION OF MILD BRACHMANN-DELANGE-SYNDROME

被引：13

作者：

CHODIRKER, BN

CHUDLEY, AE

机构：

[1] UNIV MANITOBA,DEPT CHILD HLTH & PEDIAT,WINNIPEG,MB,CANADA

[2] UNIV MANITOBA,DEPT HUMAN GENET,WINNIPEG,MB,CANADA

[3] HLTH SCI CTR,WINNIPEG,MB,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 03期

关键词：

BRACHMANN-DE LANGE SYNDROME; MALE-TO-MALE TRANSMISSION; AUTOSOMAL DOMINANT;

D O I：

10.1002/ajmg.1320520315

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a father and son with mild Brachmann-de Lange syndrome. Previous reports have documented apparent autosomal dominant transmission; however, only one example of male-to-male transmission of possible Brachmann-de Lange syndrome has been reported. This case provides further evidence of the existence of an autosomal dominant form of Brachmann-de Lange syndrome. (C) 1994 Wiley Liss, Inc.

引用

页码：331 / 333

页数：3

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