H–Y gene expression in apparent absence of the long arm of the Y chromosome

Abstract

H-Y antigen expression was detected on cells from an individual having a presumptive 45,X/46,X,i(Yp) karyotype, but was absent on cells from another person having a 46,X,i(Yq) karyotype. This suggests that the short arm of the human Y chromosome is essential for H-Y antigen expression, at least in the subjects studied.

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

“…Also, as Malkova et al ' Simpson136 137). Two of these cases,77 80 for instance, showed a pericentric C band which Jalal et a!8' report to be on the Yq. In summary, then, cases of dic(Yp) and i(Yp) are at present of limited usefulness in localising male determining factors for the following reasons: (1) a 45,X cell line is invariably present, and its role in preventing masculinisation cannot be ruled out regardless of its frequency; (2) it is usually difficult to determine how much Yq material is present in the dic(Yp) (although in most cases, postulated Yq testis determinants should be present); and (3) the distinction between an i(Yp) and adel(Y)(q 1 1) cannot yet be made reliably.…”

“…79 80 However, the evidence offered to distinguish the i(Yp) from a del(Yq) is not substantial in either case. In one,79 it is based on a 'double positive' H-Y antigen level.…”