Abstract
A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants of the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y antigen (ostensibly the product of Y-chromosomal testis-determining genes) indicated absence of the H-Y+ phenotype normally associated with the intact Y chromosome. We conclude that genes exist on the short arm of the human Y chromosome which both suppress some of the somatic stigmata of Turner syndrome and determine normal expression of H-Y antigen and testicular differentiation of the primitive gonad. Our data are consistent with the view that H-Y genes comprise a family of testis-determinants, and that loss of a critical moiety is inconsistent with normal development of the male gonad.
Original language | English (US) |
---|---|
Pages (from-to) | 458-468 |
Number of pages | 11 |
Journal | American Journal of Human Genetics |
Volume | 31 |
Issue number | 4 |
State | Published - 1979 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)