Resumo

PINA NAPAL, Juan Carlos; VAZQUEZ DRAKE, Charles T; GRANDA IBARRA, Hilda  e  SUARDIAZ MARTINEZ, Blanca. Molecular characterization of two patients 46XY: feminine phenotype. Swyer syndrome. AMC [online]. 2004, vol.8, n.3, pp. 25-33. ISSN 1025-0255.

Swyer syndrome is a disorder in sexual differentiation in which patients show a femenine phenotype with 46xy karyotype and gonadal hypoplasia without germinal cells. Among the possible causes for sexual reversion present in this syndrome it is the absence of SRY gene, located in the chromosome Y. This exerts the rector role in the gene cascade which intervenes in the sexual differentiation. In this work we performed the technique of chain reaction of polymerase for enlarging the SRY gene, with the aim of knowing if the abscense of it may explain the sexual reversion in our two patients. We detected this presence of SRY gene and concluded that the cause of this syndrome may be mutations in the SRY gene or in other genes that participate in the sexual differentiation cascade in humans.

Palavras-chave : 46 XY GONADAL DYSGENESIS; SEX CHROMOSOME ABNORMALITIES.

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