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Article

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

American journal of medical genetics. Part A - 1 Nov 2011

Liao Jun, DeWard Stephanie J, Madan-Khetarpal Suneeta, Surti Urvashi, Hu Jie

Abstract excerpt

A broad spectrum of neurodevelopmental and psychiatric disorders with variable expressivity has been reported to be associated with 15q13.3 heterozygous microdeletions. Using oligonucleotide-based array-CGH analysis, we identified a small homozygous 15q13.3 deletion in a 6-year-old girl with significant global developmental delay, severe hypotonia, cortical visual impairment, staring spell seizure, and abnormal...

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Source

Identifiers

PMID: 21990074
DOI: 10.1002/ajmg.a.34237

Genes

CHRNA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.PMID 21990074Read ↗

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Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.Semantic proximity Read ↗

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.Semantic proximity Read ↗

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