Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea.
Fertil Steril. 2011 Jan;95(1):349-52, 352.e1-5. doi: 10.1016/j.fertnstert.2010.08.014.
In this report, we describe 10 male cases of complex chromosome rearrangements (CCRs) with fertility problems: seven of them showed impairment of spermatogenesis, oligoasthenoteratozoospermia or azoospermia; in the other three cases, recurrent abortions were observed. The CCRs were characterized by conventional fluorescence in situ hybridization (FISH) and multicolor FISH methods as well as by the routine G-banding technique. CCRs found in three cases with recurrent abortions were double two-way exchanges, which were the simplest forms of CCRs; three oligoastenoteratozoospermic cases were double two-way exchanges or three-way exchanges. However, the CCRs in four azoospermic cases were much more complicated forms of CCRs. From our results and a review of the literature, we conclude that the complexity of CCRs might affect the severity of spermatogenetic impairment rather than the number of chromosomes involved or the location of breakpoints.
在本报告中，我们描述了 10 例具有生育问题的复杂染色体重排（CCR）的男性病例：其中 7 例表现为精子发生障碍、少精症、弱精症或无精症；在另外 3 例中，观察到反复流产。CCR 采用常规荧光原位杂交（FISH）和多色 FISH 方法以及常规 G 带技术进行特征描述。在 3 例反复流产的病例中发现的 CCR 是双二向交换，这是 CCR 最简单的形式；3 例少精症病例是双二向交换或三向交换。然而，4 例无精症病例的 CCR 则更为复杂。根据我们的结果和文献回顾，我们得出结论，CCR 的复杂性可能会影响精子发生障碍的严重程度，而不是涉及的染色体数量或断裂点的位置。
