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Article

Chromosome 7q22-q31 duplication: report of a new case and review.

American journal of medical genetics - 13 Nov 2000

Mégarbané A, Gosset P, Souraty N, Lapierre J M, Turleau C, Vekemans M, Loiselet J, Prieur M

Abstract excerpt

We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases...

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PMID: 11078569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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