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Article

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

American journal of medical genetics. Part A - 1 Mar 2024

Bourgois Alexia, Bizaoui Varoona, Colson Cindy, Vincent-Devulder Aline, Molin Arnaud, Gérard Marion, Gruchy Nicolas

Abstract excerpt

Recurrent 1q21.1 copy number variants (CNVs) have been associated with a wide spectrum of clinical features, ranging from normal phenotype to moderate intellectual disability, with congenital anomalies and dysmorphic features. They are often inherited from unaffected parents and the pathogenicity is difficult to assess. We describe the phenotypic and genotypic data for 34 probands carrying CNVs in the 1q21.1...

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Identifiers

PMID: 37881147
DOI: 10.1002/ajmg.a.63457

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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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