Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

@article{Bremer2011CopyNV,
  title={Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.},
  author={Anna Bremer and Maibritt Giacobini and Mats Eriksson and Peter Gustavsson and Viviann Nordin and Elisabeth Fernell and Christopher Gillberg and Ann Nordgren and Asa Uppstr{\"o}mer and B M Anderlid and Magnus Nordenskj{\"o}ld and Jacqueline Schoumans},
  journal={American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
  year={2011},
  volume={156 2},
  pages={115-24}
}
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 de novo aberrations. In addition, 20 individuals (9%) were shown to have CNVs of… CONTINUE READING
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