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Article

Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.

American journal of medical genetics. Part A - 15 Mar 2003

Parmar Ramesh C, Muranjan Mamta N, Kotvaliwale S, Sharma Seema, Bharucha B A

Abstract excerpt

A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15-year-old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated...

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Identifiers

PMID: 12599192
DOI: 10.1002/ajmg.a.10044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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