Article
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Mar 2011
Bremer Anna, Giacobini MaiBritt, Eriksson Mats, Gustavsson Peter, Nordin Viviann, Fernell Elisabeth, Gillberg Christopher, Nordgren Ann, Uppströmer Asa, Anderlid Britt-Marie, Nordenskjöld Magnus, Schoumans Jacqueline
Abstract excerpt
Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high-resolution whole genome array-based comparative genomic hybridization (array-CGH) to screen 223 ASD patients for gene dose alterations associated with susceptibility for autism. Clinically significant copy number variations (CNVs) were identified in 18 individuals (8%), of which 9 cases (4%) had...
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