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

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.