Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.
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.
Rooryck
Caroline
C
Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France. carolinethambo@hotmail.com
Souakri
Noui
N
Cailley
Dorothée
D
Bouron
Julie
J
Goizet
Cyril
C
Delrue
Marie-Ange
MA
Marlin
Sandrine
S
Lacombe
Feclad Didier
FD
Arveiler
Benoît
B
D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization; D005260:Female; D020869:Gene Expression Profiling; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D055815:Young Adult
D015415:Biomarkers