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Article

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

American journal of medical genetics. Part A - 1 Aug 2010

Piard Juliette, Philippe Christophe, Marvier Marie, Beneteau Claire, Roth Virginie, Valduga Mylène, Béri Mylène, Bonnet Céline, Grégoire Marie-José, Jonveaux Philippe, Leheup Bruno

Abstract excerpt

The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variability appears to be influenced by the parental origin of the duplication. We present here the clinical evaluation and psychological assessment of the largest reported...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20635369
DOI: 10.1002/ajmg.a.33521

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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