46,Y,t(X;19)伴生精阻滞型非梗阻性无精子症个案报道及文献回顾  

46,Y,t(X;19)associated with non-obstructive azoospermia(maturation arrest type):case report and literature review

作　　者：姚晨成 汪小波 李朋[1] 田汝辉[1] 陈慧兴[1] 张建雄 孙红芳[1] 智二磊[1] 黄煜华[1] 刘纳川 洪艳[1] 彭云鹏 李铮[1] Yao Chencheng;Wang Xiaobo;Li Peng;Tian Ruhui;Chen Huixing;Zhang Jianxiong;Sun Hongfang;Zhi Erlei;Huang Yuhua;Liu Nachuan;Hong Yan;Peng Yunpeng;Li Zheng(Department of Andrology,Center for Men's Health,Institute of Urology,Urologic Medical Center,Shanghai General Hospital,Shanghai Key Lab of Reproductive Medicine,Shanghai Jiao Tong University,Shanghai 200080,China;Department of Urology,the Affiliated Hospital of Xuzhou Medical University,Xuzhou 221006,China)

机构地区：[1]上海交通大学附属第一人民医院泌尿外科中心男科,男性健康评估中心,上海市生殖医学重点实验室,200080 [2]徐州医科大学附属医院泌尿外科,221006

出　　处：《中华生殖与避孕杂志》2021年第2期163-166,共4页Chinese Journal of Reproduction and Contraception

基　　金：国家重点专项研发计划(2017YFC1002003);国家自然科学基金(81871215,82001530);上海市青年科技英才扬帆计划(20YF1439500)。

摘　　要：目的探究生精阻滞型非梗阻性无精子症的染色体遗传学因素。方法回顾分析1例生精阻滞型非梗阻性无精子症患者X与常染色体平衡易位并进行文献回顾。结果本例非梗阻性无精子症患者,染色体核型为46,Y,t(X;19)(p22.1;q13.3),其父母核型正常,Y染色体微缺失检查未见明显异常,全外显子测序未见明显致病基因突变,染色体微阵列分析(chromosomal microarray analysis,CMA)未见明显致病拷贝数变异(copy number variation,CNV),患者睾丸组织病理提示:精母细胞阻滞型非梗阻性无精子症。结论46,Y,t(X;19)平衡异位可以导致生精阻滞型非梗阻性无精子症。Objective To explore the chromosomal genetic factors of maturation arrest non-obstructive azoospermia(NOA).Methods A case of maturation arrest NOA patients with chromosome reciprocal translocation was retrospective analyzed with literature review.Results The karyotype of 46,Y,t(X;19)(p22.1;q13.3)was detected in a NOA patient,and the karyotypes of his parents were normal.There were no micro-deletions of Y chromosome.Also,no obvious pathogenic gene mutations were found in whole-exome sequencing(WES).Furthermore,there were no pathogenic copy number variations(CNVs)detected by chromosomal microarray analysis(CMA)in the patient.The histopathological analysis revealed that the spermatogenesis arrested at spermatocyte stage.Conclusion 46,Y,t(X;19)chromosome reciprocal translocation could lead to maturation arrest NOA.

关 键 词：染色体平衡易位 生精阻滞 非梗阻性无精子症 遗传咨询 

分 类 号：R698.2[医药卫生—泌尿科学]