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Article

Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype.

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

Lichtenbelt K D, Hochstenbach R, van Dam W M, Eleveld M J, Poot M, Beemer F A

Abstract excerpt

We report a girl with severe retardation of expressive speech development carrying a small, supernumerary ring chromosome derived from the proximal region of the long arm of chromosome 7. The r(7) chromosome is present in 50% of lymphocytes. We also review the six additional cases with a supernumerary r(7) chromosome reported in the literature. Among these patients, a severe retardation of productive language...

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Source

Identifiers

PMID: 15580634
DOI: 10.1002/ajmg.a.30408

Genes

LIMK1

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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