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PMID: 573550 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.

American journal of human genetics ·Vol. 31 ·No. 4 ·1979-07-00 ·Pages 458-68

Rosenfeld RG, Luzzatti L, Hintz RL, Miller OJ, Koo GC, Wachtel SS

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.

MeSH Terms
Body Height Child Chromosome Mapping Female Genes Gonadal Dysgenesis/genetics Gonadal Dysgenesis, 46,XY/genetics H-Y Antigen/genetics Humans Male Phenotype Sex Chromosomes Sex Differentiation Y Chromosome
Chemicals
H-Y Antigen
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Rosenfeld R G
Luzzatti L
Hintz R L
Miller O J
Koo G C
Wachtel S S
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1979-07-00
Pages
458-68
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1685895
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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