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. 1993 Jun;30(6):482–486. doi: 10.1136/jmg.30.6.482

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

N R Dennis 1, A L Collins 1, J A Crolla 1, A E Cockwell 1, A M Fisher 1, P A Jacobs 1
PMCID: PMC1016421  PMID: 8326492

Abstract

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 of the patients also had streaky hyperpigmentation of the skin in a pattern suggesting dermal mosaicism. It has been hypothesised that the severe phenotype might be the result of the small r(X) chromosome remaining active. However, there is little critical evidence to support this suggestion, while there is considerable evidence against it, including (1) a similar phenotype in 45,X/46,X,r(Y) patients, (2) the late replication of some of the small r(X) chromosomes associated with this phenotype, and (3) the expression of XIST in some of the affected patients.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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