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Article

Three patients with ring (X) chromosomes and a severe phenotype.

Journal of medical genetics - 1 Jun 1993

Dennis N R, Collins A L, Crolla J A, Cockwell A E, Fisher A M, Jacobs P A

Abstract excerpt

Three patients with mosaicism and a cell line containing a small ring (X) chromosome are described. Their phenotype is similar to several previously reported patients with a 45,X/46,X,r(X) karyotype and a phenotype far more severely affected than expected in Turner's syndrome. The clinical picture includes mental retardation, a facial appearance reminiscent of the Kabuki make up syndrome, and limb anomalies. Some...

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

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Source

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Identifiers

PMID: 8326492
DOI: 10.1136/jmg.30.6.482
PMCID: PMC1016421

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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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