BALANCED T(6-8)(6P8P-6Q8Q) AND THE CHARGE ASSOCIATION

被引：38

作者：

HURST, JA ^{[1
]}

MEINECKE, P ^{[1
]}

BARAITSER, M ^{[1
]}

机构：

[1] ALTONAER KINDERKRANKENHAUS,HAMBURG,GERMANY

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 01期

关键词：

D O I：

10.1136/jmg.28.1.54

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A girl is described with bilateral retinal colobomata, Fallot's tetralogy, unilateral choanal atresia, abnormalities of the external ears, bilateral sensorineural deafness, a unilateral facial nerve palsy, and a tracheo-oesophageal fistula. A clinical diagnosis of the CHARGE association was made. She had an apparently balanced whole arm translocation involving chromosomes 6 and 8. Parental karyotypes were normal.

引用

页码：54 / 55

页数：2