Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
J Clin Lab Anal. 2021 Feb;35(2):e23614. doi: 10.1002/jcla.23614. Epub 2020 Oct 14.
Chromosome translocation is a genetic factor associated with male infertility. However, cases of Y chromosome/autosome translocation are rare. Individuals with translocation between the Y chromosome and an autosome have a variety of different clinical phenotypes. There is a need for further study of molecular cytogenetic feature of those with Y chromosome translocation.
We reported that an apparently healthy 31-year-old man, 168 cm tall and weighing 65 kg, had a 2-year history of primary infertility after marriage. Clinical diagnostic techniques included semen analysis, hormone measurements, cytogenetic analysis, fluorescence in situ hybridization (FISH), and high-throughput multiplex ligation-dependent probe amplification semiconductor sequencing. Detailed genetic counseling was provided to the patient. Intracytoplasmic sperm injection treatment combined with preimplantation genetic diagnosis was chosen with the aim of achieving a successful pregnancy.
Semen analysis revealed cryptozoospermia. Hormone levels were within the normal limits. Sequencing results indicated the presence of the sex-determining region on Yp, and AZFa, AZFb, and AZFc regions on Yq. The patient's karyotype was 45,X,psu,dic(Y;14)(p11.3;q11.2), which was confirmed by cytogenetic analysis and FISH.
This study reports a case of cryptozoospermia in a male patient with a Y;14 chromosomal translocation. When clinical karyotyping has revealed potential Y chromosome abnormality, FISH or molecular detection should be further performed to facilitate identification of the chromosomal breakpoint.
染色体易位是与男性不育相关的遗传因素。然而，Y 染色体/常染色体易位的情况较为罕见。Y 染色体与常染色体之间发生易位的个体具有多种不同的临床表型。需要进一步研究 Y 染色体易位个体的分子细胞遗传学特征。
我们报道了一例明显健康的 31 岁男性，身高 168cm，体重 65kg，婚后 2 年原发性不育。临床诊断技术包括精液分析、激素测量、细胞遗传学分析、荧光原位杂交（FISH）和高通量多重连接依赖性探针扩增半导体测序。为患者提供了详细的遗传咨询。选择了卵胞浆内精子注射治疗结合着床前遗传学诊断，以实现成功妊娠。
精液分析显示隐匿性精子症。激素水平在正常范围内。测序结果显示 Yp 上存在性别决定区，Yq 上存在 AZFa、AZFb 和 AZFc 区。患者的核型为 45，X，psu，dic（Y；14）（p11.3；q11.2），这通过细胞遗传学分析和 FISH 得到了证实。
本研究报告了一例男性隐匿性精子症患者存在 Y；14 染色体易位。当临床核型分析显示潜在的 Y 染色体异常时，应进一步进行 FISH 或分子检测，以帮助识别染色体断裂点。
