Journal article
Structural Variation of Chromosomes in Autism Spectrum Disorder
Abstract
Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. We performed genome-wide assessment for structural abnormalities in 427 unrelated ASD cases via single-nucleotide polymorphism microarrays and karyotyping. With microarrays, we discovered 277 unbalanced …
Authors
Marshall CR; Noor A; Vincent JB; Lionel AC; Feuk L; Skaug J; Shago M; Moessner R; Pinto D; Ren Y
Journal
American Journal of Human Genetics, Vol. 82, No. 2, pp. 477–488
Publisher
Elsevier
Publication Date
February 2008
DOI
10.1016/j.ajhg.2007.12.009
ISSN
0002-9297