Chapelle A D, Schröder J, Murros J, Tallqvist G
Clin Genet. 1977 Feb;11(2):91-106. doi: 10.1111/j.1399-0004.1977.tb01285.x.
Two XX males who were second cousins are reported. A genetic mechanism producing maleness is suggested. The putative factor had been transmitted solely through males, which excludes the possibility of a heritable X-Y interchange. Recent reports on fluorescent Y chromatin in Sertoli cells of XX males prompted investigations into the fluorescence patterns of testicular cells. Sertoli cells from three XX males displayed brightly fluorescent spots, but it was concluded that they did not represent Y chromosomes. Evidence for this conclusion was obtained from the study of testicular fluorescence in XX, XXY and XY males. No visually detectalbe cytogenetic evidence for an increase in length or altered banding pattern of one of the X chromosomes was found in three XX males. We conclude that an autosomal gene is the most likely explanation of the male differentiation in the two XX males presented here.
报道了两名二级表亲关系的XX男性。提出了一种产生男性特征的遗传机制。假定的因素仅通过男性传递，这排除了遗传性X-Y互换的可能性。最近关于XX男性支持细胞中荧光Y染色质的报道促使人们对睾丸细胞的荧光模式进行研究。三名XX男性的支持细胞显示出明亮的荧光斑点，但得出的结论是它们并不代表Y染色体。这一结论的证据来自对XX、XXY和XY男性睾丸荧光的研究。在三名XX男性中，未发现任何视觉上可检测到的细胞遗传学证据表明其中一条X染色体长度增加或带型改变。我们得出结论，常染色体基因最有可能是此处所呈现的两名XX男性男性化的原因。
