Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

doi:10.1136/jmg.2008.059907

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Article

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Journal of medical genetics - 1 Apr 2009

Miller D T, Shen Y, Weiss L A, Korn J, Anselm I, Bridgemohan C, Cox G F, Dickinson H, Gentile J, Harris D J, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith S E, Sobeih M M, Soul J S, Stoler J, Takeoka M, Tan W-H, Thakuria J, Wolff R, Yusupov R, Gusella J F, Daly M J, Wu B-L

Abstract excerpt

BACKGROUND: Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. PATIENTS: DNA samples from 1445 unrelated patients submitted consecutively for clinical array comparative genomic hybridisation (CGH) testing at Children's Hospital Boston and DNA samples...

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Identifiers

PMID: 18805830
DOI: 10.1136/jmg.2008.059907
PMCID: PMC4090085

Genes

CHRNA7

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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