Villegas A, Anguita E, González F A, Ferro M T, San Román C
Servicio de Hematología y Hemoterapia, Hospital Universitario San Carlos, Madrid, Spain.
Cancer Genet Cytogenet. 1998 Jan 1;100(1):1-4. doi: 10.1016/s0165-4608(97)00003-4.
We report the case of a patient with a myeloproliferative syndrome and traits of myelodysplasia and myelofibrosis whose karyotype showed 5q and 13q deletions, as well as Philadelphia chromosome negativity. A molecular biology study performed by Southern blot, with a probe covering the M-bcr region, led to detection of three bands other than the germinal ones, which hints at the possible existence of two cut points in the M-bcr region of an allele, or participation of both alleles. The patient presented a complex hematological picture, which might be explained on the basis of the cytogenetic and molecular findings.
我们报告了一例患有骨髓增殖综合征以及骨髓发育异常和骨髓纤维化特征的患者，其核型显示5号染色体长臂和13号染色体长臂缺失，且费城染色体阴性。通过Southern印迹法进行的分子生物学研究，使用覆盖M-bcr区域的探针，除了生殖细胞条带外还检测到三条条带，这暗示在一个等位基因的M-bcr区域可能存在两个切点，或者两个等位基因均参与其中。该患者呈现出复杂的血液学表现，这可能基于细胞遗传学和分子学发现得到解释。
