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目的 对1例患者衍生的9号染色体进行基因组拷贝数分析, 明确其遗传物质的来源并推测其发生机制.探讨微阵列比较基因组杂交技术 (array-based comparative genomic hybridization, array-CGH) 在临床分子遗传学诊断中的应用及其优越性.方法 对患者外周血进行常规G显带分析, 进一步应用array-CGH对患者进行全基因组扫描检测, 应用Real-time Quantitative PCR对异常拷贝数区域进行验证检测, 确定其衍生染色体片段的来源.结果 患者外周血染色体核型分析提示为46, XX, der (9) (p?) .array-CGH分析提示患者9q22和9q34之间插入了16p13.3约3.68M的重复片段、14q32.3约3.37M的重复片段以及9q33.3约25Kb的重复片段.RT-q PCR证明array-CGH的结果是正确的.结论 患者衍生的9号染色体来源于16p、14q及9q部分片段的重复, 是导致患者多次流产的主要原因.array-CGH应用到临床具有高分辨、高通量和高准确性的优点, 适用于全基因组拷贝数变异分析.“,”Objective:To 1 patients derived genome copy number analysis of chromosome 9, the source of genetic material in a clear and its pathogenesis. Micro array comparative genomic hybridization technology (array-based comparative genomic hybridization, array CGH) in the diagnosis of clinical molecular genetics and its superiority. Methods:Of peripheral blood in patients with normal G banding analysis, further application of array CGH-to genome-wide scans of patients, application of Real-time policy PCR for detecting abnormal copy number area for validation. Identifies the source of its derivative chromosome fragment. Results:In patients with peripheral blood chromosome karyotype analysis of 46, XX, der (9) (p) ?. Array CGH analysis between tip 9 q22 patients and 9 q34 insert 16 p13. 3 is about 3.68 M of repeat fragment, 14 q32.3 is about 3.37 M of repeat fragment and 9 q33.3 about 25 kb repeat fragment. RT-q PCR prove array-the result of the CGH is correct. Conclusion:Derived from patients with chromosome 9 from 16 segments of 9 p, 14 q and q part of repetition, is the main reason of leading to multiple miscarriages. Array-CGH is applied to the clinical with high resolution, high flux, and the advantages of high accuracy, used throughout the genome copy number variation analysis.