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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.