Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome
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DOI：
10.1002/ajmg.a.31025
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发表时间：
2006-01-01
影响因子：
2
通讯作者：
Pober, BR
中科院分区：
文献类型：
--
作者：
Kantarci, S;Casavant, D;Pober, BR
先天性膈疝（CDH）是一种常见且通常具有破坏性的出生缺陷，可以单独发生或作为畸形综合征的一部分发生。在确定先天性髋关节脱位的遗传原因方面正在取得相当大的进展。我们应用基于阵列的比较基因组杂交（aCGH）的分辨率类似于1 Mb的29例CDH患者先前正常的核型谁已被招募到我们的多位点研究。1例临床诊断为Fryns综合征的患者，经FISH证实在染色体1 q41-q42.12区域存在从头5 Mb缺失。鉴于以前的报告CDH与该地区的细胞遗传学异常，我们建议，这是一个位点的Fryns综合征，Fryns综合征表型，或CDH。(c)2005 Wiley-Liss，Inc.
Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of similar to 1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into Our multisite study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41-q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH. (c) 2005 Wiley-Liss, Inc.