Tomomasa H, Adachi Y, Iwabuchi M, Oshio S, Umeda T, Iino Y, Takano T, Nakahori Y
Department of Urology, Teikyo University School of Medicine, Tokyo, Japan.
Arch Androl. 2000 Nov-Dec;45(3):181-5. doi: 10.1080/01485010050193959.
The authors report a case with pericentric inversion of the Y chromosome associated with asthenonecrozoospermia. The conventional karyotype was 46, X, inv (Y) (p11q11). Polymerase chain reaction (PCR) analysis revealed the deletion of DYZ3, DYS139, and RBM1. Three-color fluorescent in situ hybridization (FISH) analysis of the sperm chromosomes showed normal ratio between X- and Y-bearing sperm. In this case, the frequencies of aneuploidy of the sperm are not significantly higher compared with those from the normal volunteers. Cytogenetic analysis is recommended when the patients with pericentric inversion of the Y chromosome are attending an infertility clinic.
作者报告了一例与弱精死精症相关的Y染色体臂间倒位病例。常规核型为46,X,inv(Y)(p11q11)。聚合酶链反应(PCR)分析显示DYZ3、DYS139和RBM1缺失。精子染色体的三色荧光原位杂交(FISH)分析显示，含X和含Y精子之间的比例正常。在该病例中，精子非整倍体的频率与正常志愿者相比没有显著升高。对于就诊于不孕不育门诊的Y染色体臂间倒位患者，建议进行细胞遗传学分析。
