论文部分内容阅读
目的:报道1例少弱畸精子症不育男性合并罕见的染色体重排。方法:进行GTG-显带,CBG-显带和荧光原位杂交分析染色体核型。用微阵列比较基因组杂交和AZF微缺失检测核型拷贝数变化。结果:分裂相中存在1条线性标记染色体和1个环状标记染色体,它们都源于13号染色体。且环形染色体不带有α-卫星DNA;Y染色体AZF微缺失检测结果正常。微阵列比较基因组杂交未观察到13号染色体拷贝数缺失。结论:本研究首次报告了1例染色体重排导致的平衡核型合并严重少弱畸精子症。其可能原因是染色体重排干扰了减数分裂I期染色体联会重组过程,导致减数分裂阻滞在精母细胞阶段。但这还有待于进一步的实验证实。
Objective: To report a case of oligozoospermia infertile men with rare chromosomal rearrangements. Methods: Genomic karyotypes were analyzed by GTG-banding, CBG-banding and fluorescence in situ hybridization. Genomic hybridization with microarrays and AZF microdeletions were used to detect karyotype copy number changes. Results: There were one linear marker chromosome and one circular marker chromosome in the split phase, all of which originated from chromosome 13. And the circular chromosome without α-satellite DNA; Y chromosome AZF microdeletion test results were normal. No loss of copy number on chromosome 13 was observed in the microarray comparative genomic hybridization. Conclusions: This study reports for the first time a case of balanced karyotype with severe oligozoospermia associated with chromosomal rearrangements. The possible reason is that chromosomal rearrangement interferes with the meiotic recombination process of chromosome I, resulting in meiotic arrest in the spermatocyte stage. But this needs to be confirmed by further experiments.