Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
复制标题
DOI：
10.1016/j.ejmg.2011.05.008
复制
发表时间：
2011-09-01
影响因子：
1.9
通讯作者：
Scherer, Stephen W.
中科院分区：
文献类型：
--
作者：
Chung, Brian H. Y.;Drmic, Irene;Scherer, Stephen W.
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 detailed clinical features, as well as refine the rearrangement breakpoints of this disease-associated copy number variation region, which encompasses more than 50 genes. We propose that in addition to ID, the phenotypic spectrum associated with dup(X)(p11.22-p11.23) can include ASD, language impairment, and/or other primary psychiatric disorders. (C) 2011 Elsevier Masson SAS. All rights reserved.
