Bernard-Soulier syndrome associated with 22q11.2 microdeletion

被引：0

作者：

Nakagawa, M ^{[1
]}

Okuno, M ^{[1
]}

Okamoto, N ^{[1
]}

Fujino, H ^{[1
]}

Kato, H ^{[1
]}

机构：

[1] Shiga Univ Med Sci, Dept Pediat, Otsu, Shiga 5202192, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 99卷 / 04期

关键词：

Bernard-Soulier syndrome; 22q11.2; microdeletion; thrombocytopenia; cardiac surgery; viral infection; hemorrhagic diathesis;

D O I：

10.1002/1096-8628(2001)9999:9999<::AID-AJMG1176>3.0.CO;2-T

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a Japanese girl with Bernard-Soulier syndrome and 22q11.2 microdeletion. She had viral infections and recurrent thrombocytopenia and hemorrhagic diathesis after cardiac surgery. As congenital heart defects and abnormal immunity are the most common clinical manifestations associated with 22q11.2 deletion, patients with this association may have a greater risk of developing a severe bleeding disorder. (C) 2001 Wiley-Liss, Inc.

引用

页码：286 / 288

页数：3

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