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本文首次报道1例伴有3号染色体长臂部分重复(q24→q26)的无巨核细胞性血小板减少症.患者为15岁男孩,因周身瘀点而就诊,当时发现血小板减少,骨髓增生正常.红系巨幼变和巨核细胞缺如.给予强的松、雄激素、VB_(12)和叶酸治疗,6个月后病情无好转而入院.体检除结合膜、
This is the first report of a case of megakaryoblastic thrombocytopenia with a long arm repeat (q24 → q26) on chromosome 3. The patient was a 15-year-old boy who was diagnosed with peritumoral petechia and was found to have thrombocytopenia and normal myeloproliferation. Red giant megaloblastic and megakaryocyte absence given given prednisone, androgen, VB_ (12) and folic acid therapy, 6 months later admitted to the hospital without improvement.The physical examination in addition to the combination of membrane,