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47,XYY karyotype and normal SRY in a patient with a female phenotype
S Benasayag1, M Rittler, F Nieto
1Centro de Estudios Genéticos, CEG, Buenos Aires, Argentina.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|July 17, 2001
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.