Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

被引：19

作者：

Maas, SM

Hoovers, JMN

van Seggelen, ME

Menzel, DM

Hennekam, RCM

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1100 DE Amsterdam, Netherlands

[3] Slotervaart Hosp, Dept Pediat, Amsterdam, Netherlands

来源：

CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 01期

关键词：

chromosome; 2q23q24; interstitial deletion; clinical findings; camptodactyly; eye anomalies; cardiac defects;

D O I：

10.1097/00019605-200009010-00010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been reported in most of the previously described cases. A comparison of the features of the present patient with those in previously reported cases suggests the deletion 2q23q24 to be a clinically recognizable syndrome. Clin Dysmorphol 9:47-53 (C) 2000 Lippincott Williams & Wilkins.

引用

收藏

页码：47 / 53

页数：7

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