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.