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Article

Stable ring chromosome 21: molecular and clinical definition of the lesion.

American journal of medical genetics - 1 Jan 1992

Falik-Borenstein T C, Pribyl T M, Pulst S M, Van Dyke D L, Weiss L, Chu M L, Kraus J, Marshak D, Korenberg J R

Abstract excerpt

Ring chromosome 21 results in deletions of chromosome 21. We report on a cytogenetic and molecular analysis of a 4-generation family segregating a stable ring chromosome 21 in 4 relatives. To investigate the molecular structure of the ring chromosome, we have analyzed the DNAs of the transmitted ring in a mother and her daughter. The daughter presented at the age of 2 years with severe growth retardation and...

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PMID: 1308361
DOI: 10.1002/ajmg.1320420107

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CBS

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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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