SRY-Positive 46,XX Male with Cryptorchidism as the Only Presenting Clinical Feature.

Autor: Moreno-Garcia, Marta, del Pozo, Jaime Sanchez, Gutierrez-Diez, Pilar, Gil-Fournier, Belen, Miranda, Emilia Barreiro
Předmět:
Zdroj: Urologia Internationalis; Aug2003, Vol. 71 Issue 2, p219-221, 3p
Abstrakt: 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, detected a small Y chromosome fragment, including the SRY gene, transferred to the short arm of the X chromosome. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index