Fugazza G, Bruzzone R, Sessarego M
Department of Internal Medicine, University of Genova, Italy.
Cancer Genet Cytogenet. 1994 Nov;78(1):7-9. doi: 10.1016/0165-4608(94)90038-8.
Examining a bone marrow (BM) karyotype of a patient with a refractory anemia with excess of blasts (RAEB), we detected a clone with an unbalanced translocation(1;17), resulting in monosomy of 17p and trisomy of 1q. Using fluorescence in situ hybridization (FISH) technique with alpha-satellite DNA probes specific for chromosomes 1 and 17, we observed that the chromosome derived from the translocation shows hybridization signals for both the centromeres of chromosomes 1 and 17. This finding suggests that the breakpoints of the two autosomes involved in the rearrangement occurred in the primary constriction. The case confirms the ability of ISH analysis to detect structural rearrangements in cancer cytogenetics.
在检查一名伴有过多原始细胞的难治性贫血（RAEB）患者的骨髓（BM）核型时，我们检测到一个具有不平衡易位（1；17）的克隆，导致17p单体和1q三体。使用针对1号和17号染色体的α卫星DNA探针的荧光原位杂交（FISH）技术，我们观察到源自易位的染色体显示出1号和17号染色体着丝粒的杂交信号。这一发现表明，参与重排的两条常染色体的断点发生在主缢痕处。该病例证实了原位杂交分析在癌症细胞遗传学中检测结构重排的能力。
