de la Chapelle A, Simola K, Simola P, Knuutila S, Gahmberg N, Pajunen L, Lundqvist C, Sarna S, Murros J
Hum Genet. 1979 Nov;52(2):157-67. doi: 10.1007/BF00271568.
This paper reports an attempt to determine whether the short arm of one of the X chromosomes in XX males is longer than normal. In a blind study comparing coded photomicrographs of 15 G-banded mitoses from each of five XX males and five control females, the results were ambiguous and somewhat contradictory, but gave the impression of, or were compatible with, an XXp+ phenomenon in at least two of the five XX males. Measurements of the X chromosomes from the above cells and, in addition, from 15 mitoses from each of six XXY males, failed to disclose any XXp+ phenomenon. Statistical analysis indicated that in the five XX males there was no difference in the lengths of the two Xp arms. The reasons for the apparent discrepancy between the results of ocular inspection and measurement are discussed. The putative heteromorphism might be an alteration in shape, staining intensity, or position of bands, neither of which necessarily leads to an increase in length. We conclude that our results do not indicate any XXp+ phenomenon in the five XX males tested. However, the presence or absence of XXp+ is not in itself evidence for or against interchange betweenthe X and Y in the paternal meiosis. Our results emphasize that the etiology of XX males is likely to be heterogeneous.
本文报告了一项旨在确定XX男性中一条X染色体的短臂是否比正常情况更长的尝试。在一项盲法研究中，对来自5名XX男性和5名对照女性的15个G带有丝分裂的编码显微照片进行比较，结果不明确且有些矛盾，但给人的印象是，或者与至少2名XX男性中的XXp+现象相符。对上述细胞以及另外6名XXY男性的15个有丝分裂中的X染色体进行测量，未发现任何XXp+现象。统计分析表明，5名XX男性的两条Xp臂长度没有差异。文中讨论了目视检查结果与测量结果之间明显差异的原因。假定的异态性可能是带型的形状、染色强度或位置发生改变，而这两者都不一定会导致长度增加。我们得出结论，我们的结果并未表明在测试的5名XX男性中存在任何XXp+现象。然而，XXp+的存在与否本身并不能作为支持或反对父本减数分裂中X和Y之间发生互换的证据。我们的结果强调，XX男性的病因可能是异质性的。
