Familial XX true hermaphroditism and the H-Y antigen

  title={Familial XX true hermaphroditism and the H-Y antigen},
  author={Marco Fraccaro and L. Tiepolo and Orsetta Zuffardi and Giuseppe Chiumello and Berardo di Natale and Livio Gargantini and Ulrich Wolf},
  journal={Human Genetics},
Two 46,XX sibs, one of female, one of male gender, and both with ambiguous external genitalia and ovotestis, were H-Y positive. The mother was H-Y negative. It is assumed that the underlying mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance. The common origin and the nature of the mutation leading to XX sex reversal are discussed. 


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