Journal article
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
Abstract
Dup(X)(p11.22-p11.23) has been shown to be associated with intellectual disability (ID, also referred to as mental retardation). Here, we characterize a 4.64 Mb de novo duplication of the same Xp11.22-p11.23 ID region in a female, but for this reference case the diagnosis was Autism Spectrum Disorder (ASD). Besides ASD, she also had very persistent trichotillomania, anxiety symptoms and some non-specific dysmorphic features. We report the …
Authors
Chung BHY; Drmic I; Marshall CR; Grafodatskaya D; Carter M; Fernandez BA; Weksberg R; Roberts W; Scherer SW
Journal
European Journal of Medical Genetics, Vol. 54, No. 5, pp. e516–e520
Publisher
Elsevier
Publication Date
September 2011
DOI
10.1016/j.ejmg.2011.05.008
ISSN
1769-7212