Background Constitutional heterologous double Robertsonian translocations (DRT) between chromosomes 13/14 and chromosomes 14/15 with 44 chromosomes are extremely rare. In this case report, we present the karyotype analysis of metaphases prepared from bone marrow, peripheral blood and cultured skin tissue cells. These showed only 44 chromosomes with DRT involving chromosomes 13, 14 and 15. To our knowledge this is the first reported case with DRT involving chromosomes 14 and 15. Case presentation The patient is an 81-year-old infertile male with a history of persistent macrocytic anemia (MA). The patient presented with fatigue, paleness of the skin, shortness of breath, lightheadedness and occasional dizziness. Work-up for common causes of macrocytic anemias in this case were excluded: folate/vitamin B12 deficiency, hypothyroidism, liver diseases, hemolysis, bleeding, alcoholism, exposure, HIV infection, chemotherapy or blood loss, drug-toxicity effect, or myelodysplasia. This individual with DRT had only six nucleolus organizer regions (NORs), instead of the usual ten, of which 50% of the 6 NORs were inactive (n = 3). Conclusion In this case, macrocytic anemia (MA) appeared to be due to reduction in active NORs in DRT. We postulate that the marked reduction in active NORs leads to reduction in active nucleoli formation, which may be limiting ribosomal RNA synthesis, contributing to MA. It is probable that reduction in NOR activity affected normal DNA synthesis and cellular functions.

中文翻译：

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患有大细胞性贫血的不孕患者的双罗伯逊易位：病例报告。

背景 44 条染色体的 13/14 号染色体和 14/15 号染色体之间的宪法性异源双罗伯逊易位 (DRT) 极为罕见。在本病例报告中，我们介绍了从骨髓、外周血和培养的皮肤组织细胞制备的中期的核型分析。这些结果仅显示 44 条染色体进行 DRT，涉及 13、14 和 15 号染色体。据我们所知，这是第一例报道的涉及 14 和 15 号染色体的 DRT 病例。 病例介绍 患者是一名 81 岁不育男性，有持续性不育史。大细胞性贫血（MA）。患者表现为疲倦、皮肤苍白、呼吸短促、头晕，偶尔头晕。该病例中排除了大细胞性贫血的常见原因：叶酸/维生素 B12 缺乏、甲状腺功能减退、肝病、溶血、出血、酗酒、暴露、HIV 感染、化疗或失血、药物毒性作用或骨髓增生异常。该患有 DRT 的个体只有 6 个核仁组织区 (NOR)，而不是通常的 10 个，其中 6 个 NOR 中有 50% 不活跃 (n = 3)。结论 在该病例中，大细胞性贫血 (MA) 似乎是由于 DRT 中活性 NOR 减少所致。我们假设活性 NOR 的显着减少导致活性核仁形成的减少，这可能会限制核糖体 RNA 的合成，从而导致 MA。NOR 活性的降低可能会影响正常的 DNA 合成和细胞功能。