Array-CGH Analysis of a Cohort of 86 Patients With Oculoauriculovertebral Spectrum

被引：50
|
作者：
Rooryck, Caroline [1 ,2 ]
Souakri, Noui [1 ]
Cailley, Dorothee [2 ]
Bouron, Julie [2 ]
Goizet, Cyril [1 ,2 ]
Delrue, Marie-Ange [2 ]
Marlin, Sandrine [3 ]
Lacombe, Feclad Didier [1 ,2 ]
Arveiler, Benoit [1 ,2 ]
机构：
[1] Univ Bordeaux 2, Lab Genet Humaine, EA4137, F-33076 Bordeaux, France
[2] CHU Bordeaux, Serv Genet Med, Bordeaux, France
[3] Hop Trousseau, APHP, Serv Genet Med, F-75571 Paris, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 08期
关键词：
oculoauriculovertebral spectrum; OAVS; array-CGH; Goldenhar syndrome; AURICULO-VERTEBRAL SPECTRUM; GOLDENHAR-SYNDROME; HEMIFACIAL MICROSOMIA; MENTAL-RETARDATION; 22Q11.2; DELETION; HEART-DEFECTS; SEQUENCE; FEATURES; MALFORMATIONS; GENE;
D O I：
10.1002/ajmg.a.33491
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS. (C) 2010 Wiley-Liss, Inc.
引用
收藏
页码：1984 / 1989
页数：6
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