NDLI: Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

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Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Rooryck, Caroline Souakri, Noui Cailley, Dorothée Bouron, Julie Goizet, Cyril Delrue, Marie-Ange Marlin, Sandrine Lacombe, Feclad Didier Arveiler, Benoît
Description	Country affiliation: France Author Affiliation: Rooryck C ( Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France. carolinethambo@hotmail.com)
Abstract	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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	8
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-08-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Aberrations Gene Expression Profiling Goldenhar Syndrome Genetics Oligonucleotide Array Sequence Analysis Adolescent Adult Biological Markers Metabolism Child Child, Preschool Cohort Studies Comparative Genomic Hybridization Female Humans Infant Infant, Newborn Male Young Adult Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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