title: The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
abstract: Chromosome analysis is an important diagnostic tool in the identification of causes of mental retardation, developmental delay, and other developmental disabilities. Cytogenetic approaches have revealed the chromosomal basis of a large number of genetic syndromes. The recent use of microarray-based comparative genomic hybridization (array CGH) has accelerated the identification of novel cytogenetic abnormalities. We present the results of array CGH in 8,789 clinical cases submitted for a variety of developmental problems. Of these cases, 6.9% showed clinically relevant abnormalities, 1.2% showed benign copy-number variants (polymorphisms), 2.5% showed recurrent alterations of unclear clinical significance-many of which are likely to be polymorphisms-and 1.4% showed novel alterations of unclear relevance. Although cytogenetic methods, including array CGH, have great potential for identifying novel chromosomal syndromes, this high-resolution analysis may also result in diagnostic challenges imposed on laboratories and clinicians regarding findings of unclear clinical significance. (c) 2007 Wiley-Liss, Inc.
authors.affiliation: Signature Genomic Laboratories, LLC, 120 N Pine Street, Ste 242C, Spokane, WA 99202, USA. shaffer@signaturegenomics.com
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: Bassem A
authors.initials: BA
authors.lastname: Bejjani
authors.forename: Beth
authors.initials: B
authors.lastname: Torchia
authors.forename: Susan
authors.initials: S
authors.lastname: Kirkpatrick
authors.forename: Justine
authors.initials: J
authors.lastname: Coppinger
authors.forename: Blake C
authors.initials: BC
authors.lastname: Ballif
mesh_terms: D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D020732:Cytogenetic Analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009693:Nucleic Acid Hybridization; D013577:Syndrome