Scherer G, Schempp W, Fraccaro M, Bausch E, Bigozzi V, Maraschio P, Montali E, Simoni G, Wolf U
Institut für Humangenetik, Anthropologie der Universität, Freiburg i. Br., Federal Republic of Germany.
Hum Genet. 1989 Feb;81(3):247-51. doi: 10.1007/BF00278998.
Two cases of 47,XXX males were studied, one of which has been published previously (Bigozzi et al. 1980). Analysis of X-linked restriction fragment length polymorphisms revealed that in this case, one X chromosome was of paternal and two were of maternal origin, whereas in the other case, two X chromosomes were of paternal and one of maternal origin. Southern blot analysis with Y-specific DNA probes demonstrated the presence of Y short arm sequences in both XXX males. In one case, the results obtained pointed to a paracentric inversion on Yp of the patient's father. In situ hybridization indicated that the Y-specific DNA sequences were localized on Xp22.3 in one of the three X chromosomes in both cases. The presence of Y DNA had no effect on random X inactivation. It is concluded that both XXX males originate from aberrant X-Y interchange during paternal meiosis, with coincident nondisjunction of the X chromosome during maternal meiosis in case 1, and during paternal meiosis II in case 2.
对两例47,XXX男性患者进行了研究，其中一例此前已发表（比戈齐等人，1980年）。对X连锁限制性片段长度多态性的分析显示，在该病例中，一条X染色体来自父亲，两条来自母亲；而在另一病例中，两条X染色体来自父亲，一条来自母亲。用Y特异性DNA探针进行的Southern印迹分析表明，两名XXX男性患者均存在Y短臂序列。在一个病例中，所得结果表明患者父亲的Yp发生了臂间倒位。原位杂交表明，在两例患者的三条X染色体中的一条上，Y特异性DNA序列定位于Xp22.3。Y DNA的存在对随机X失活没有影响。得出的结论是，两名XXX男性患者均源于父本减数分裂期间异常的X-Y互换，病例1中母本减数分裂期间X染色体同时发生了不分离，病例2中则是父本减数分裂II期间发生了不分离。
