Pierella P, Craig I, Bobrow M, de la Chapelle A
Hum Genet. 1981;59(1):87-8. doi: 10.1007/BF00278863.
Quantitative assays of steroid sulphatase in XX males have shown that some individuals have two functional loci, and others only one. Two affected cousins, who cannot share the same X-chromosome, nevertheless have male levels of steroid sulphatase, suggesting functional abnormality of the X chromosome. The hypothesis is advanced that these and other unusual features of X-chromosome function in some XX males, could be explained if such cases were due to an autosomal mutation, exercising its effect by causing abnormal inactivation of a subterminal area of Xp which normally escapes the inactivation process.
对XX男性个体的类固醇硫酸酯酶进行定量分析表明，一些个体有两个功能性基因座，而另一些个体只有一个。两个受影响的堂兄弟，他们不可能共享同一条X染色体，但却具有男性水平的类固醇硫酸酯酶，这表明X染色体存在功能异常。有人提出这样一个假说：如果这些XX男性以及其他一些XX男性中X染色体功能的异常特征是由常染色体突变引起的，该突变通过导致Xp亚末端区域异常失活而发挥作用，而该区域通常逃避失活过程，那么这些异常特征就可以得到解释。
