多重平衡易位伴重度少精子症1例  

Multiple balanced translocation with severe oligospermia in 1 case

作　　者：张宁[1] 张琳 王雪楠[1] 张智慧 杨爱军[1] 刘庄[1] Zhang Ning;Zhang Lin;Wang Xuenan;Zhang Zhihui;Yang Aijun;Liu Zhuang(Department of Reproductive Medicine,Affiliated Hospital of Jining Medical University,Jining 272029,China)

机构地区：[1]济宁医学院附属医院生殖医学科,济宁272029

出　　处：《国际遗传学杂志》2025年第1期65-69,共5页International Journal of Genetics

基　　金：济宁市科技局重点研发项目(2023YXNS109,2023YXNS172,2023YXNS228)。

摘　　要：目的通过1例因发生染色体多重平衡易位导致重度少精子症家系,探讨患者导致不孕不育的可能致病原因。方法患者因不孕不育,于2024年3月来济宁医学院附属医院生殖医学科就诊,结果显示精子浓度非常低。对患者行核型分析技术,全外显子测序技术,试图探明精子减少的相关可能性。结果患者检查显示为重度少精子症,精子密度<2×106条/mL,精子活力差。核型分析结果显示为罕见的46,XY,t(4;17;20;5)(q23;p12;q13.2;q13.1)。全外显子分析结果提示,患者不存在Y染色体微缺失、微重复以及其他染色体变异。结论本家系患者发生比较罕见的多条染色体的相互平衡易位。发生多条染色体相互平衡易位可能一定程度上影响了精子的生成,导致患者表现为重度少精子症。ObjectiveThrough a family with severe oligospermia caused by multiple balanced translocation of chromosomes,we dexplored the possible causes of infertility in the patient.MethodsIn March 2024,due to infertility,the patient came to the department of reproductive medicine in affiliated hospital of Jining medical university.The results showed that the sperm concentration was very low.We performed karyotype analysis and whole exome sequencing on the patients to try to explore the possibility of sperm reduction.ResultsThe patient showed severe oligozoospermia,with sperm density<2×106/ml and poor sperm motility.Karyotype analysis revealed a rare 46,XY,t(4;17;20;5)(q23;p12;q13.2;q13.1).The results of whole exome sequencing showed that there were no Y chromosome microdeletions,microduplications and other chromosomal variations in the patient.ConclusionsThe patient in this family had a rarely balanced translocation of multiple chromosomes.We speculated that the occurrence of balanced translocation of multiple chromosomes may affected sperm production to a certain extent,resulting in severe oligozoospermia.

关 键 词：染色体 核型分析 多重平衡易位 全外显子测序 

分 类 号：R446.1[医药卫生—诊断学]