Kirsch-Volders M, Hens L, van den Berghe H, Scholberg B, Susanne C
J Med Genet. 1982 Feb;19(1):57-62. doi: 10.1136/jmg.19.1.57.
The method of 'generalised distances' was applied to characterise the relative position of the metaphase chromosomes in a population of XXY subjects (180 metaphases from 28 subjects). The most striking observation was that the presence of an extra gonosome coincided with a disturbance of the normally stable centromere-centre distribution pattern. The distribution analysis gave no clear cut evidence for the induction of gonosomal trisomy XXY by chromosome association. No significant association was observed between X and X or X and Y but there was a smaller distance between X and Y in XXY karyotypes than in XY karyotypes. As far as autosomes are concerned, the XXY karyotypes were characterised by a less central location of the acrocentrics without a clear decrease of association frequencies of these acrocentrics, and the C heterochromatin rich chromosomes were more often associated than in the XX and XY control populations. These data do not support the idea that gonosomal trisomies result from chromosome associations, but favour the hypothesis that spindle degeneration as a result of intrafollicular ageing of C heterochromatin polymorphism may be responsible for non-disjunctions.
采用“广义距离”法来描述XXY受试者群体（来自28名受试者的180个中期染色体相）中期染色体的相对位置。最显著的观察结果是，额外性染色体的存在与正常稳定的着丝粒-中心分布模式的紊乱同时出现。分布分析没有明确证据表明染色体联会会导致性染色体三体XXY的产生。未观察到X与X或X与Y之间有显著关联，但XXY核型中X与Y之间的距离比XY核型中的小。就常染色体而言，XXY核型的特征是近端着丝粒染色体的位置较不居中，且这些近端着丝粒染色体的联会频率没有明显降低，富含C异染色质的染色体比XX和XY对照群体中更常发生联会。这些数据不支持性染色体三体是由染色体联会导致的观点，而是支持这样一种假说，即由于C异染色质多态性的卵泡内老化导致纺锤体退化可能是不分离的原因。
