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Chromosome 1q21 translocation and spermatogenesis failure: Two case reports and review of the literature

机译：染色体1Q21易位和精子发生衰竭：两种病例报告和审查文献

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Rationale: For the carriers of chromosome reciprocal translocation, the reason why some are fertile and others are infertile remains unclear. Here, we describe 2 patients who are carriers of chromosome 1q21 translocation with azoospermia . Patient concerns: A 29-year-old male and a 33-year-old male presented at the clinic with a diagnosis of infertility. Diagnosis: Both patients with azoospermia were diagnosed with Routine semen analysis, cytogenetic diagnosis and detection of serum reproductive hormones. The karyotype results of 2 patients were 46,XY,t(1;17)(q21;q23) and 46,XY,t(1;10)(q21;p12), respectively. Interventions: After genetic counseling and informed consent, 1 patient (Case 2) chose microsopic testicular sperm extraction (micro-TESE). Outcomes: After micro-TESE, no sperm was found for the patient. Finally, both patients chose clinical treatment through artificial insemination with donor sperm. Lessons: These outcomes suggest that breakpoint at 1q21 should be paid attention by physician in genetic counseling , may harbor some genes associated with spermatogenesis, and deserves further be studied on the function of related genes.
机译：理由：对于染色体互惠易位的载体，有些是肥沃的原因，其他是不孕的不明朗。在这里，我们描述了2例患者，其染色体1Q21易位与Zooospermia。病人担忧：一名29岁的男性和一名33岁的男性，诊断不孕症。诊断：患有杂志患者的患者被诊断为常规的精液分析，细胞遗传学诊断和血清生殖激素的检测。 2名患者的核型结果分别为46，XY，T（1; 17）（Q21; Q23）和46，XY，T（1; 10）（Q21; P12）。干预：遗传咨询和知情同意后，1例患者（案例2）选择微妙的睾丸精子萃取（微TESE）。结果：微皮后，患者没有发现精子。最后，两名患者都选择通过与供体精子的人工授精的临床治疗。课程：这些结果表明，1Q21的断点应由医生在遗传咨询中得到注意，可能涉及一些与精子发生的基因，并且应该进一步研究相关基因的功能。

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