title: Array comparative genomic hybridisation: a new tool in the diagnostic genetic armoury.
abstract: The traditional understanding of genetic disease, that, with the exception of aneuploidy, it is due primarily to single base pair changes or small deletions and duplications has been challenged over the last decade. This challenge has been spearheaded by increasing evidence of the frequency and significance of larger genomic rearrangements. It now appears that a substantial proportion of Mendelian conditions are caused by deletions and duplications that involve the copy number of one or more contiguous genes. It is becoming apparent too that de novo chromosomal events are much more frequent than spontaneous point mutations and that chromosomal rearrangement is likely to account for the vast majority of sporadic disease.
authors.affiliation: LabPlus, Auckland City Hospital, Auckland, New Zealand.
authors.forename: Renate
authors.initials: R
authors.lastname: Marquis-Nicholson
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
authors.forename: Ian
authors.initials: I
authors.lastname: Hayes
authors.forename: Alice
authors.initials: A
authors.lastname: George
authors.forename: Donald R
authors.initials: DR
authors.lastname: Love
mesh_terms: D055028:Comparative Genomic Hybridization / Q000379:methods*; D004247:DNA / Q000032:analysis*; D015894:Genome, Human / Q000235:genetics*; D016045:Human Genome Project / Q000458:organization & administration*; D006801:Humans; D015203:Reproducibility of Results
chemical_list: D004247:DNA