PRESENCE OF THE AZF REGION IN A FEMALE WITH AN IDIC(Y)(Q11)

In a child with some features of Turner's syndrome, gonosomal mosaicis m with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos /47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathologi cal examination showed streak gonads with some evidence of ovarian str oma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) ana lysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY) , azoospermia factor region (AZF) and the deleted in azoospermia (DAZ) gene was positive for all loci tested, confirming the isodicentric ch aracter of the Y chromosome and indicating the presence of the AZF reg ion. It is remarkable that the existence of spermatogenesis controllin g genes does not play an important role in gonadal development and dif ferentiation in a phenotypic female with some Turner stigmata. The dat a presented here are briefly discussed with previously-described patie nts.