Donti E, Tabilio A, Bocchini F, Falzetti F, Martelli M F, Grignani F, Donti G V
Istituto di Clinica Medica I, Università di Perugia, Italy.
Leuk Res. 1990;14(11-12):1035-40. doi: 10.1016/0145-2126(90)90117-r.
Three cases of idiopathic myelofibrosis with partial trisomy of the long arm of chromosome 1 are described. Partial trisomy 1q was the only karyotypic change detectable in unstimulated peripheral blood cell cultures of one and bone-marrow cultures of two patients at diagnosis. The extra segment from chromosome 1 was located on different karyotype sites, i.e. 1qter, 1p34 and 6p22-23; 1q21-32 was the shortest overlapping region and the only trisomic segment in one of the three patients. These findings suggest that partial trisomy 1q is a primary chromosome aberration in myelofibrosis relevant in the pathogenesis of this hematologic disorder.
本文描述了3例伴有1号染色体长臂部分三体性的原发性骨髓纤维化病例。1q部分三体是1例患者未经刺激的外周血细胞培养以及2例患者诊断时骨髓培养中唯一可检测到的核型改变。来自1号染色体的额外片段位于不同的核型位点，即1qter、1p34和6p22 - 23；1q21 - 32是最短的重叠区域，也是3例患者中1例的唯一三体片段。这些发现表明，1q部分三体是骨髓纤维化中的一种原发性染色体畸变，与这种血液系统疾病的发病机制相关。
