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

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页码：1984 / 1989

页数：6

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