Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

被引：12

作者：

Velagaleti, GVN

Kumar, A

Lockhart, LH

Matalon, R

机构：

[1] Univ Texas, Med Branch, Dept Pediat, Div Genet, Galveston, TX 77551 USA

[2] Univ Texas, Med Branch, Dept Pathol, Galveston, TX 77551 USA

[3] Univ Texas, Med Branch, Dept Pediat, Div Cardiol, Galveston, TX 77551 USA

来源：

ANNALES DE GENETIQUE | 2000年 / 43卷 / 02期

关键词：

patent ductus arteriosus; deletion; 22q11; Klinefelter syndrome;

D O I：

10.1016/S0003-3995(00)01013-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe an uncommon association of deletion 22q11 in a patient with Klinefelter syndrome. Even though congenital heart defects (CHD) are not associated with Klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. While this finding may be coincidental, it is important to further evaluate patients when the clinical features are suggestive of a secondary abnormality. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

引用

页码：105 / 107

页数：3

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