McMaster Institute of Urology, St. Joseph's Hospital, 50 Charlton Avenue East, Hamilton, Ontario, Canada.
J Assist Reprod Genet. 2012 Sep;29(9):939-42. doi: 10.1007/s10815-012-9822-y. Epub 2012 Jun 24.
The isodicentric Y (idic Y) chromosome is one of the most common aberrations of the human Y chromosome. Due to a structural instability during cell division, patients with idic Y may develop mosaic karyotypes with variable phenotypes. We present a rare case of a 25-year-old male with azoospermia and infertility. In this patient, an idic Yq was characterized by duplication of almost the entire Y chromosome in head-to-head fashion with breakpoints occurring at the distal Yp / Yp11.3 with sparing of both the AZF and SRY regions. We discuss the possible mechanisms of azoospermia in this patient and add to the limited evidence that exists regarding the importance of pseudoautosomal regions and meiotic sex chromosome pairing as part of normal spermatogenesis.
等臂 Y 染色体（idic Y）是人类 Y 染色体最常见的异常之一。由于在细胞分裂过程中结构不稳定，idic Y 患者可能会出现表型可变的嵌合体核型。我们报告了一例罕见的 25 岁男性，表现为无精子症和不育。在该患者中，idic Yq 以近乎整个 Y 染色体头对头重复为特征，断裂点发生在远端 Yp/Yp11.3，同时保留了 AZF 和 SRY 区域。我们讨论了该患者无精子症的可能机制，并补充了关于假常染色体区域和减数分裂性染色体配对作为正常精子发生的一部分的重要性的有限证据。
