Faed M J, Robertson J, Lamont M A, MacIntosh W, Grieve J, Baxby K, James G B, Crowder A M
J Reprod Fertil. 1979 May;56(1):209-16. doi: 10.1530/jrf.0.0560209.
A study of 336 men attending a subfertility clinic but otherwise unselected, and a further 12 men studied as a part of the investigation of the female partner, revealed 10 with major chromosome anomaly and 3 with unambiguous chromosomal variants. In addition to those with sex chromosome aneuploidy, an extra, small marker chromosome and D/D Robertsonian translocations, anomalies which have been reported in other studies, there were 7 men with rearrangements, including a paracentric inversion of chromosome 7 and an X/21 reciprocal translocation. These would have been difficult or impossible to identify without good banded preparations, suggesting that such rearrangement may be more frequent in association with subfertility than was appreciated.
一项针对336名就诊于不育门诊且无其他特殊情况的男性的研究，以及另外12名作为女性伴侣调查一部分进行研究的男性，发现其中10人存在主要染色体异常，3人有明确的染色体变异。除了那些具有性染色体非整倍体、额外的小标记染色体和D/D罗伯逊易位（这些异常在其他研究中已有报道）之外，还有7名男性存在染色体重排，包括7号染色体的臂内倒位和X/21相互易位。如果没有良好的显带制备，这些重排很难或不可能被识别，这表明这种重排在不育症患者中可能比我们之前认识到的更为常见。
