SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature.
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.
Moreno-García
Marta
M
Department of Genetics, '12 de Octubre' Hospital, Madrid, Spain. mmoreno@gen12oct.com
Sánchez Del Pozo
Jaime
J
Gutierrez-Díez
Pilar
P
Gil-Fournier
Belén
B
Barreiro Miranda
Emilia
E
D002675:Child, Preschool; D041321:Chromosomes, Human, X; D003456:Cryptorchidism / Q000235:genetics*; D024282:Genes, sry; D023961:Gonadal Dysgenesis, 46,XX / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype