H-Y antigen-positive male pseudohermaphroditism with 45,X/46,XYq-mosaicism.
A 42-year-old male had short stature, microphallus, hypospadias, a bifid scrotum, abdominal undifferentiated testes, a uterus, bilateral fallopian tubes, and 45,X/46,XYq-mosaicism in his blood, skin, and germinal tissue and tissue surrounding the tests as determined by means of G-, Q-, and C-banding. An H-Y antigen assay on skin fibroblasts was positive, indicating that the locus for this antigen is not located in the brightly fluorescent region of the Y chromosome.
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012730:Sex Chromosomes; D013737:Testis / Q000648:ultrastructure; D014998:Y Chromosome
D006182:H-Y Antigen