Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 145C, Issue 4, Pages 335-345Publisher
WILEY
DOI: 10.1002/ajmg.c.30152
Keywords
molecular cytogenetics; chromosome banding; fluorescence in situ hybridization; translocation; microdeletion; microarray; comparative genomic hybridization
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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.
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