Nonmosaic 46,X,r(Y) karyotype with female phenotype.
A nonmosaic case of ring Y chromosome is described. The patient is phenotypically female and has streak gonads. The histologic examination revealed dysgenetic seminiferous tubules in the streaks and epididymislike tubules besides them. The possibilities of the development of the phenotype and the streaks are discussed.
D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006066:Gonads / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012730:Sex Chromosomes; D014998:Y Chromosome