Ghaffari S R, Boyd E, Connor J M, Jones A M, Tolmie J L
Institute of Medical Genetics, Yorkhill Hospitals Campus, Glasgow, UK.
J Med Genet. 1998 Oct;35(10):836-40. doi: 10.1136/jmg.35.10.836.
We report the use of comparative genomic hybridisation (CGH) to define the origin of a supernumerary ring chromosome which conventional cytogenetic banding and fluorescence in situ hybridisation (FISH) methods had failed to identify. Targeted FISH using whole chromosome 19 library arm and site specific probes then confirmed the CGH results. This study shows the feasibility of using CGH for the identification of supernumerary marker chromosomes, even in fewer than 50% of cells, where no clinical or cytogenetic clues are present.
我们报告了使用比较基因组杂交（CGH）来确定一条额外环状染色体的起源，而传统的细胞遗传学带型分析和荧光原位杂交（FISH）方法未能识别出该染色体。随后，使用19号全染色体文库臂和位点特异性探针进行的靶向FISH证实了CGH结果。这项研究表明，即使在不到50%的细胞中且不存在临床或细胞遗传学线索的情况下，使用CGH识别额外标记染色体也是可行的。
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