[Microarray-based comparative genomic hybridization in the study of constitutional chromosomal abnormalities].
Chromosomal aberrations are the first cause of mental impairment and dysmorphism. Rearrangements involving large chromosomal segments can be detected by standard chromosome analysis using GTG-banding, but this technique is not suited for the detection of small chromosome abnormalities. Array comparative genomic hybridisation (array-CGH) is a method used to detect segmental DNA copy number alterations. Recently, advances in this technology have enabled high-resolution examination for identifying genetic alterations and copy number variations on a genome-wide scale. This review describes the current genomic array platforms and CGH methodologies and highlights their applications for studying constitutional disease.
Béri-Dexheimer
M
M
Laboratoire de Génétique EA 4002-IFR111, CHU de Nancy-Brabois, rue du Morvan, 54511 Vandoeuvre-lès-Nancy, France.
Bonnet
C
C
Chambon
P
P
Brochet
K
K
Grégoire
M-J
MJ
Jonveaux
P
P
D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D015342:DNA Probes; D018628:Gene Dosage; D006801:Humans; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods
D015342:DNA Probes