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Article

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

Human genetics - 1 Jan 2000

Turner C, Dennis N R, Skuse D H, Jacobs P A

Abstract excerpt

Small ring (X) chromosomes lacking the XIST gene at Xq13.2 have been associated with a severe phenotype that includes mental retardation, facial dysmorphism and congenital abnormalities. It has been hypothesised that the loss of XIST results in functional disomy for the sequences contained in the ring. We studied 47 females with a 45,X/46,r(X) karyotype and found seven to have an XIST-negative ring. Only one of...

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Source

Identifiers

PMID: 10982188
DOI: 10.1007/s004390051015

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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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