XY gonadal dysgenesis: Genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis Article

cited authors

  • Simpson, JL; Blagowidow, N; Martin, AO

fiu authors


  • Clinical observations and segregation analysis indicate that XY gonadal dysgenesis is characterized by genetic heterogeneity. In addition to the type inherited in X-linked recessive fashion, segregation analysis of other families suggested another type by revealing that the proportion of affected sibs did not differ from that expected on the basis of a male-limited autosomal recessive inheritance. Further heterogeneity may be deduced on the basis of coexisting campomelic dwarfism or possibly also renal parenchymal abnormalities. These observations of genetic heterogeneity must be considered when interpreting studies in which individuals with XY gonadal dysgenesis may or may not show H-Y antigen. © 1981 Springer-Verlag GmbH & Co. KG.

publication date

  • August 1, 1981

Digital Object Identifier (DOI)

start page

  • 91

end page

  • 97


  • 58


  • 1