Clinical phenotype of the recurrent 1q21.1 copy-number variant.

doi:10.1038/gim.2015.78

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Article

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2016

Bernier Raphael, Steinman Kyle J, Reilly Beau, Wallace Arianne Stevens, Sherr Elliott H, Pojman Nicholas, Mefford Heather C, Gerdts Jennifer, Earl Rachel, Hanson Ellen, Goin-Kochel Robin P, Berry Leandra, Kanne Stephen, Snyder LeeAnne Green, Spence Sarah, Ramocki Melissa B, Evans David W, Spiro John E, Martin Christa L, Ledbetter David H, Chung Wendy K

Abstract excerpt

PURPOSE: To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of 1q21.1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains. METHODS: Nineteen individuals with 1q21.1...

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Identifiers

PMID: 26066539
DOI: 10.1038/gim.2015.78
PMCID: PMC7263044

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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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