Fragile X syndrome and 22q11.2 microdeletion in the same sibship

被引：0

作者：

Missirian, C ^{[1
]}

Moncla, A ^{[1
]}

Voelckel, MA ^{[1
]}

Ravix, V ^{[1
]}

Philip, N ^{[1
]}

机构：

[1] Hop Enfants La Timone, Dept Med Genet, F-13385 Marseille 05, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2000年 / 95卷 / 04期

关键词：

inherited; 22q11.2; microdeletion; fragile X syndrome; cytogenetic and molecular studies;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a family with an unusual association of two frequent genetic disorders, 22q11.2 microdeletion and fragile X syndrome, originating from the same parent. Our observation confirms the wide intrafamilial clinical variability of the 22q11.2 microdeletion and illustrates the difficulty of the clinical diagnosis for the fragile X syndrome in affected females. (C) 2000 Wiley-Liss, Inc.

引用

页码：358 / 360

页数：3

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