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Article

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

European journal of medical genetics - 1 Jan 2000

Chung Brian H Y, Drmic Irene, Marshall Christian R, Grafodatskaya Daria, Carter Melissa, Fernandez Bridget A, Weksberg Rosanna, Roberts Wendy, Scherer Stephen W

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21689796
DOI: 10.1016/j.ejmg.2011.05.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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