Genetically determined sex-reversal in 46,XY humans

James German, Joe Leigh Simpson, R. S.K. Chaganti, Robert L. Summitt, Lloyene Bruce Reid, Irwin R. Merkatz

Research output: Contribution to journalArticlepeer-review

85 Scopus citations

Abstract

Evidence is presented for the existence of a gene, probably on the X chromosome, which prevents testis differentiation when present in 46,XY human embryos. Affected 46,XY women are not completely normal because of premature ovarian involution, as a result of which they have "streak gonads" similar to those of 45,X women.

Original languageEnglish (US)
Pages (from-to)53-56
Number of pages4
JournalScience
Volume202
Issue number4363
DOIs
StatePublished - 1978
Externally publishedYes

ASJC Scopus subject areas

  • General

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