Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association

被引：18

作者：

Arrington, CB

Cowley, BC

Nightingale, DR

Zhou, H

Brothman, AR

Viskochil, DH

机构：

[1] Univ Utah, Div Med Genet, Dept Pediat, Salt Lake City, UT 84132 USA

[2] Univ Utah, Dept Pathol, Salt Lake City, UT 84132 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 133A卷 / 03期

关键词：

8q deletion; CHARGE; coloboma; heart defect; growth retardation; genital tract hypoplasia; malformed ears;

D O I：

10.1002/ajmg.a.30562

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Specific genetic loci responsible for CHARGE association are currently unknown. Herein, we describe a neonate with clinical manifestations consistent with CHARGE association who has a de novo interstitial deletion involving bands 8q11.2 to 8q13. Genetic mapping and genomic microarray technology have been used to more accurately define the breakpoints of this deletion. Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association. (C) 2005 Wiley-Liss, Inc.

引用

页码：326 / 330

页数：5

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