47,XYY karyotype and normal SRY in a patient with a female phenotype.

doi:10.1515/jpem.2001.14.6.797

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Article

47,XYY karyotype and normal SRY in a patient with a female phenotype.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jun 2001

Benasayag S, Rittler M, Nieto F, Torres de Aguirre N, Reyes M, Copelli S

Abstract excerpt

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.

Topics

Adolescent
Disorders of Sex Development
Female
Genes, sry
Humans
Karyotyping
Phenotype
Reference Values

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Open in PubMed

Identifiers

PMID: 11453532
DOI: 10.1515/jpem.2001.14.6.797

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