Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

doi:10.1002/ajmg.a.36856

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Article

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

American journal of medical genetics. Part A - 1 May 2015

Chatron Nicolas, Haddad Véronique, Andrieux Joris, Désir Julie, Boute Odile, Dieux Anne, Baumann Clarisse, Drunat Séverine, Gérard Marion, Bonnet Céline, Leheup Bruno, Till Marianne, Rossi Massimiliano, Flori Elisabeth, Alembik Yves, Stewart Helen, McParland Joanna, Bernardini Laura, Castelluccio Pia, Roos Laura, Tümer Zeynep, Fagan Kerry, Hackett Anna, Bain Nicole, van Haeringen Arie, Ruivenkamp Claudia, Benzacken Brigitte, Sanlaville Damien, Edery Patrick, Aboura Azzedine, Schluth-Bolard Caroline

Abstract excerpt

Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe the largest series reported to date, including 18 patients (4M/14F) aged from 2 days to 67 years and comprising two familial cases. The patients presented with a characteristic phenotype including mild to moderate intellectual...

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PMID: 25728055
DOI: 10.1002/ajmg.a.36856

Genes

DNM3

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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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