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Article

Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: a recognizable syndrome.

American journal of medical genetics. Part A - 1 Jul 2005

Mathijssen Inge B, Hoovers Jan M N, Mul Adri N P M, Man Hai-Yen, Ket Jan L, Hennekam Raoul C M

Abstract excerpt

We report on a family with six persons in three generations who have mild mental retardation, behavioral problems, seizures, hearing loss, strabismus, dental anomalies, hypermobility, juvenile hallux valgus, and mild dysmorphic features. Classical cytogenetic analysis showed a partial duplication of chromosome 13q, array comparative genomic hybridization showed the duplication to span approximately 21 Mb, ranging...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 15889415
DOI: 10.1002/ajmg.a.30758

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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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