Gains and losses CNA in t-AML and revised karyotype after aCGH.
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Column 2 and 3: The CNA are either lost or gained as indicated by a “−” or a “+”; locations on chromosomes are described according to the ISCN 2009 with slight modifications: sequence numbers are included between <> and expressed in Mb, with a resolution of 10kb; linear ratios are written between brackets after an “×”; CNAs with a linear ratio >2 (low level of amplification) or losses bold and italics; “*” indicates CNA that are probably part of a rearrangement of the immunoglobulin genes. They have not been included in the synthetic karyotypes because they could be considered as an acquired CNV which is characteristic of monoclonal proliferation.Column 4: In bold are new data or those modified by aCGH in the synthetic karyotypes; CNAs that were contiguous but whose ratios were not too different were fused to express overall chromosome abnormality for readability.
第2列和第3列:拷贝数改变(Copy Number Alteration, CNA)的缺失或增加分别以“−”或“+”标注;染色体位置依据国际人类细胞遗传学命名标准2009版(ISCN 2009)并稍作修改:序列编号以<>括起,以兆碱基(Mb)为单位表示,分辨率达10千碱基(kb);线性比值以“×”后接括号内数值的形式标注;线性比值大于2的拷贝数改变(低水平扩增)或缺失需以粗斜体标注;“*”代表可能属于免疫球蛋白基因重排的拷贝数改变,这类改变未被纳入合成核型,因其可被视为单克隆增殖特征性的获得性拷贝数变异(Copy Number Variation, CNV)。第4列:合成核型中,新增数据或经阵列比较基因组杂交(array Comparative Genomic Hybridization, aCGH)修正的数据以粗体标注;为提升可读性,将相邻且比值差异较小的拷贝数改变进行融合,以整体呈现染色体异常情况。




