46,Y,t(X;19) associated with non-obstructive azoospermia (maturation arrest type): case report and literature review
10.3760/cma.j.cn101441-20200417-00220
- VernacularTitle: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
- Author:
Chencheng YAO
1
;
Xiaobo WANG
;
Peng LI
;
Ruhui TIAN
;
Huixing CHEN
;
Jianxiong ZHANG
;
Hongfang SUN
;
Erlei ZHI
;
Yuhua HUANG
;
Nachuan LIU
;
Yan HONG
;
Yunpeng PENG
;
Zheng LI
Author Information
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
- Publication Type:Journal Article
- Keywords:
Chromosome reciprocal translocation;
Maturation arrest;
Non-obstructive azoospermia;
Genetic counseling
- From:
Chinese Journal of Reproduction and Contraception
2021;41(2):163-166
- CountryChina
- Language:Chinese
-
Abstract:
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.
