Article
SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature.
Urologia internationalis - 1 Jan 2003
Moreno-García Marta, Sánchez Del Pozo Jaime, Gutierrez-Díez Pilar, Gil-Fournier Belén, Barreiro Miranda Emilia
Abstract excerpt
The SRY gene, located on the short arm of the Y chromosome, is responsible for differentiation of the testis from the undifferentiated gonad. We report a 4-year-old patient with male phenotype and female karyotype (46,XX) with cryptorchidism as the only presenting clinical abnormality. Fluorescent in situ hybridization analysis, using Y- and X-specific (whole chromosome painting WCP Y WCP X) DNA and SRY probes,...
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