Article
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Journal of medical genetics - 1 Mar 2010
Fernandez Bridget A, Roberts Wendy, Chung Brian, Weksberg Rosanna, Meyn Stephen, Szatmari Peter, Joseph-George Ann M, Mackay Sara, Whitten Kathy, Noble Barbara, Vardy Cathy, Crosbie Victoria, Luscombe Sandra, Tucker Eva, Turner Lesley, Marshall Christian R, Scherer Stephen W
Abstract excerpt
BACKGROUND: Recurrent microdeletions and microduplications of approximately 555 kb at 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or behavioural features have been identified that distinguish these individuals as having a distinct ASD subtype, but clinical data are limited. METHODS: We report five autistic probands identified by microarray analysis with...
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