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Title: The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Author: Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. Journal: Am J Med Genet C Semin Med Genet; 2007 Nov 15; 145C(4):335-45. PubMed ID: 17910076. 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.[Abstract] [Full Text] [Related] [New Search]