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Article

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

European journal of medical genetics - 1 May 2013

Popovici Cornel, Busa Tiffany, Missirian Chantal, Milh Mathieu, Moncla Anne, Philip Nicole

Abstract excerpt

Deletions in 15q13.3 belong to the most frequently identified recurrent CNVs, and lead to mental retardation, seizures and minor dysmorphism. We report on two monozygotic twin boys with a mosaic 1.5 Mb deletion in 15q13.3, including CHRNA7. The growth parameters were in the normal range for both twins. Both had language delay with hyperactivity, temper tantrums and poor social interaction but attended regular...

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Source

Identifiers

PMID: 23454271
DOI: 10.1016/j.ejmg.2013.02.005

Genes

CHRNA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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