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Article

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.

Nature genetics - 1 Aug 1994

Bardoni B, Zanaria E, Guioli S, Floridia G, Worley K C, Tonini G, Ferrante E, Chiumello G, McCabe E R, Fraccaro M

Abstract excerpt

Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute one of the causes of sex reversal in individuals with a normal 46,XY karyotype. We have named this locus DSS (Dosage...

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Identifiers

PMID: 7951319
DOI: 10.1038/ng0894-497

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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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