Gardó S, Papp Z
J Med Genet. 1974 Sep;11(3):267-70. doi: 10.1136/jmg.11.3.267.
A family, four members of which are affected by testicular intersexuality, is presented. Three of the four members suffer from testicular feminization, and one from pseudohermaphroditismus masculinus. Two patients with testicular feminization are half-sisters, the children of the same mother and two different fathers. This is a further proof of maternal transmission of the syndrome. Differences in the phenotypes of the patients belonging to one family may in all probability be explained by the differences in the expressivity of the pathological gene.
本文报告了一个家庭，其中四名成员患有睾丸性两性畸形。四名成员中有三名患有睾丸女性化，一名患有男性假两性畸形。两名患有睾丸女性化的患者是同父异母的姐妹，她们是同一母亲和两个不同父亲的孩子。这进一步证明了该综合征的母系遗传。同一家庭中患者表型的差异很可能是由病理基因表达的差异所解释的。
