H-Y antigen negativity associated with a normal male phenotype.
The 46, XY, 45, X mosaicism is a complement found only once among 39,557 males at birth [18]. The spectrum of phenotypes associated with this mosaicism is continuous ranging from female phenotype with or without Turner syndrome, to mixed gonadal dysgenesis, hermaphroditism, or occasionally almost normal males [24]. In such mosaicism the Y chromosome is usually rearranged: mainly i(Y) and dic(Y) but also del(Y) and r(Y). In a few cases the cell line with 46 chromosomes contains a minute marker which was assumed to be a Y-fragment (Y-f) or a del(Yq) because of the presence of testicular tissue in subjects with sexual ambiguity [20]. We now report the case of a normal but sterile man with a 45, X/46, X, Y-f caryotype who is HY antigen-negative.
D000328:Adult; D002871:Chromosome Banding; D003602:Cytotoxicity, Immunologic; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D009845:Oligospermia / Q000276:immunology*; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000276:immunology; D013737:Testis / Q000473:pathology
D006182:H-Y Antigen