SEXUAL AND SOMATIC DETERMINANTS OF THE HUMAN Y-CHROMOSOME - STUDIES IN A 46,XYP- PHENOTYPIC FEMALE
- 1 January 1979
- journal article
- research article
- Vol. 31 (4) , 458-468
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 fallopian 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. Genes on the short arm of the human Y chromosome can suppress some of the somatic stigmata of Turner syndrome and determine normal expression of H-Y antigen and testicular differentiation of the primitive gonad. The hypothesis that H-Y genes comprise a family of testis-determinants is supported. Loss of a critical moiety is apparently inconsistent with normal development of the male gonad.This publication has 43 references indexed in Scilit:
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