Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

doi:10.1016/j.ajhg.2010.10.004

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Article

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

American journal of human genetics - 12 Nov 2010

Moreno-De-Luca Daniel, Mulle Jennifer G, Kaminsky Erin B, Sanders Stephan J, Myers Scott M, Adam Margaret P, Pakula Amy T, Eisenhauer Nancy J, Uhas Kim, Weik LuAnn, Guy Lisa, Care Melanie E, Morel Chantal F, Boni Charlotte, Salbert Bonnie Anne, Chandrareddy Ashadeep, Demmer Laurie A, Chow Eva W C, Surti Urvashi, Aradhya Swaroop, Pickering Diane L, Golden Denae M, Sanger Warren G, Aston Emily, Brothman Arthur R, Gliem Troy J, Thorland Erik C, Ackley Todd, Iyer Ram, Huang Shuwen, Barber John C, Crolla John A, Warren Stephen T, Martin Christa L, Ledbetter David H

Abstract excerpt

Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12,...

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Identifiers

PMID: 21055719
DOI: 10.1016/j.ajhg.2010.10.004
PMCID: PMC2978962

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