Sexual and Somatic Determinants of the Human Y Chromosome: Studies in a 46,XYp- Phenotypic Female

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1979 Jul 1

PMID 573550

Citations 25

Authors

R G Rosenfeld

L LUZZATTI

R L Hintz

O J MILLER

G C Koo

S S Wachtel

Affiliations

Soon will be listed here.

Abstract

A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for 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.

Citing Articles

H-Y antigen and sex determination.

Gasser D Am J Hum Genet. 1980; 32(3):459-61.

PMID: 17948554 PMC: 1686055.

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

Ogata T, Matsuo N Hum Genet. 1993; 91(6):551-62.

PMID: 8340109 DOI: 10.1007/BF00205079.

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Ogata T, Tyler-Smith C, Turner G J Med Genet. 1993; 30(11):918-22.

PMID: 8301645 PMC: 1016599. DOI: 10.1136/jmg.30.11.918.

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Ogata T, Matsuo N Hum Genet. 1995; 95(6):607-29.

PMID: 7789944 DOI: 10.1007/BF00209476.

H-Y antigen in X,i(Xq) gonadal dysgenesis: evidence of X-linked genes in testicular differentiation.

Wachtel S, Koo G, BREG W, Genel M Hum Genet. 1980; 56(2):183-7.

PMID: 7450775 DOI: 10.1007/BF00295692.

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