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Article

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

European journal of human genetics : EJHG - 1 Feb 2013

Barber John C K, Hall Victoria, Maloney Viv K, Huang Shuwen, Roberts Angharad M, Brady Angela F, Foulds Nicki, Bewes Beverley, Volleth Marianne, Liehr Thomas, Mehnert Karl, Bateman Mark, White Helen

Abstract excerpt

Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2-p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual disability, behavioural difficulties, dysmorphic features and a 7.71-Mb (megabase pair) duplication (16:21 521 005-29 233 146)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22828807
DOI: 10.1038/ejhg.2012.144
PMCID: PMC3548261

Genes

GPRIN2
PLK1

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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