Pinheiro M, Freire-Maia N
Am J Med Genet. 1979;4(2):113-22. doi: 10.1002/ajmg.1320040202.
A total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ-Siemens-Touraine syndrome. The history and physical examination were supplemented by four sweat tests and dermatolglyphic analysis. It is suggested that this syndrome has two forms -- a major form (in males) and a minor one (in females). Two signs verified in some of our patients (mosaic patchy distribution of body hair and radial deviation of distal phalanges of index fingers) seem to be here described for the first time. A review of the literature shows a corrected sex ratio between 1 M: 1.21 F and 1 M: 2.38 F among affecteds. Since the manifestation rate of the gene among carriers was estimated at about 0.70, the actual sex ratio is expected to be not lower than 1 M: 1.40 F. Contrary to a general opinion, affected females outnumber affected males.
本文描述了一个巴西家族中的27名女性患有克里斯蒂 - 西门子 - 图雷恩综合征的一种或多种症状。通过四项汗液测试和皮纹分析对病史和体格检查进行了补充。研究表明，该综合征有两种形式——主要形式（男性）和次要形式（女性）。我们的一些患者中证实的两种体征（身体毛发的镶嵌斑片状分布和食指远端指骨的桡侧偏斜）似乎是首次在此描述。文献综述显示，患者中校正后的性别比为1名男性比1.21名女性至1名男性比2.38名女性。由于估计携带者中该基因的表现率约为0.70，实际性别比预计不低于1名男性比1.40名女性。与普遍观点相反，受影响的女性多于受影响的男性。
