title: 47,XYY karyotype and normal SRY in a patient with a female phenotype.
abstract: A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.
authors.affiliation: Centro de Estudios Genéticos, CEG, Buenos Aires, Argentina.
authors.forename: S
authors.initials: S
authors.lastname: Benasayag
authors.forename: M
authors.initials: M
authors.lastname: Rittler
authors.forename: F
authors.initials: F
authors.lastname: Nieto
authors.forename: N
authors.initials: N
authors.lastname: Torres de Aguirre
authors.forename: M
authors.initials: M
authors.lastname: Reyes
authors.forename: S
authors.initials: S
authors.lastname: Copelli
mesh_terms: D000293:Adolescent; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D024282:Genes, sry; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012016:Reference Values