Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

Abstract

To determine the phenotypic significance of copy number changes (CNCs) in the human genome, we performed genome-wide segmental aneuploidy profiling by BAC-based array-CGH of 278 unrelated patients with multiple congenital abnormalities and mental retardation (MCAMR) and in 48 unaffected family members. In 20 patients, we found de novo CNCs composed of… (More)
DOI: 10.1038/ejhg.2009.120

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