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

Ronald (Ron) Rosenfeld, L. Luzzatti, R. L. Hintz, O. J. Miller, G. C. Koo, S. S. Wachtel

Research output: Contribution to journalArticle

43 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)458-468
Number of pages11
JournalAmerican Journal of Human Genetics
Volume31
Issue number4
StatePublished - 1979
Externally publishedYes

Fingerprint

Chromosomes, Human, Y
Gonads
H-Y Antigen
Christianity
Turner Syndrome
Y Chromosome
Testis
Genes
Serologic Tests
Laparotomy
Uterus
Phenotype

ASJC Scopus subject areas

  • Genetics

Cite this

Rosenfeld, R. R., Luzzatti, L., Hintz, R. L., Miller, O. J., Koo, G. C., & Wachtel, S. S. (1979). Sexual and somatic determinants of the human Y chromosome: Studies in a 46,XYp- phenotypic female. American Journal of Human Genetics, 31(4), 458-468.

Sexual and somatic determinants of the human Y chromosome : Studies in a 46,XYp- phenotypic female. / Rosenfeld, Ronald (Ron); Luzzatti, L.; Hintz, R. L.; Miller, O. J.; Koo, G. C.; Wachtel, S. S.

In: American Journal of Human Genetics, Vol. 31, No. 4, 1979, p. 458-468.

Research output: Contribution to journalArticle

Rosenfeld, RR, Luzzatti, L, Hintz, RL, Miller, OJ, Koo, GC & Wachtel, SS 1979, '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, pp. 458-468.
Rosenfeld RR, Luzzatti L, Hintz RL, Miller OJ, Koo GC, Wachtel SS. Sexual and somatic determinants of the human Y chromosome: Studies in a 46,XYp- phenotypic female. American Journal of Human Genetics. 1979;31(4):458-468.
Rosenfeld, Ronald (Ron) ; Luzzatti, L. ; Hintz, R. L. ; Miller, O. J. ; Koo, G. C. ; Wachtel, S. S. / Sexual and somatic determinants of the human Y chromosome : Studies in a 46,XYp- phenotypic female. In: American Journal of Human Genetics. 1979 ; Vol. 31, No. 4. pp. 458-468.
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