Imbalances within Regions Containing Large-Scale Copy-Number Variations in Indiv w/ Developmental Abnormalities: When Does Normal Become Abnormal?

2005

Imbalances Within Regions Containing Large-Scale Copy-Number Variations in Individuals with Developmental Abnormalities: When Does Normal? Nelson, M., Pickering, D., Golden, D., Haskins-Olney, A., Schaefer, G.B., Dave, B.J., & Sanger, W.G. Alterations in copy number of DNA segments within the human genome are well-documented characteristics of developmental abnormalities and neoplastic disease. Recently much interest has been focused on segments containing copy-number changes interpreted as normal genomic variations. Several of these polymorphisms are large-scale copy-number variations (LCVs) and involve gains or losses ranging in size from several kb to 2 Mb. We present two cases involving phenotypically affected individuals with tandem copy-number changes in regions containing LCVs. We performed conventional high-resolution chromosome analysis, subtelomeric FISH assays and microarray-based comparative genomic hybridization (array CGH) in both cases to further investigate the LCV regions.

Peer-reviewed publications in scholarly journals Published/In Press

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