Wlodarska I, Marynen P, La Starza R, Mecucci C, Van den Berghe H
Center for Human Genetics, University of Leuven, Belgium.
Cytogenet Cell Genet. 1996;72(2-3):229-35. doi: 10.1159/000134197.
Structural rearrangements including deletions of the short arm of chromosome 12 are frequent cytogenetic findings in various hematologic malignant disorders. Using FISH with a panel of DNA probes we detected loss of a common region of 12p in 22 patients with different hematologic disorders. Nine of them were characterized cytogenetically by a del(12p), seven by unbalanced translocations, and in the remaining cases the loss of the 12p region was masked by translocations and insertions, adding extra material to the short arm of chromosome 12. The smallest commonly deleted region found in all cases analyzed included ETV6, the gene for p27kipl (CDKN1B), and the D12S178 marker.
包括12号染色体短臂缺失在内的结构重排是各种血液系统恶性疾病常见的细胞遗传学发现。我们使用一组DNA探针进行荧光原位杂交（FISH），在22例不同血液系统疾病患者中检测到12p常见区域的缺失。其中9例经细胞遗传学鉴定为del(12p)，7例为不平衡易位，其余病例中12p区域的缺失被易位和插入所掩盖，这些易位和插入给12号染色体短臂增加了额外的物质。在所有分析病例中发现的最小常见缺失区域包括ETV6、p27kipl（CDKN1B）基因和D12S178标记。
