47,XYY karyotype and normal SRY in a patient with a female phenotype.
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.
Benasayag
S
S
Centro de Estudios Genéticos, CEG, Buenos Aires, Argentina.
Rittler
M
M
Nieto
F
F
Torres de Aguirre
N
N
Reyes
M
M
Copelli
S
S
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