目的：利用全基因组芯片扫描技术对染色体核型检测结果异常的患者样本进行重复检测分析，验证并确认患者染色体的具体核型。方法利用基因分型芯片技术对9例临床表型皆为智力落后合并多发畸形，且核型结果异常的样本进行检测分析，比较两种技术之间结果相符程度，通过芯片平台结果来验证染色体核型技术的准确性，同时分析其临床适用性。结果染色体核型结果和全基因组芯片分析技术的结果完全符合的为2例Turner综合征患者，均为嵌合型；3例染色体核型结果阳性患者，全基因组芯片分析结果为阴性，其中2例为随体增加，1例为染色体内倒位；4例涉及染色体片段大小不同的缺失和复制的患者，核型结果和全基因组芯片结果差异较大，并且核型检测结果与患者实际核型相差较大。结论染色体核型技术在用于以往认定的适应症如智力落后、多发畸形的检测中，检测的准确性相对全基因组芯片技术较低，在明确定位染色体缺失和复制大小及位置的能力上有明显的不足，但对于检测染色体平衡性结构性变化的作用不能被芯片所取代。%Objective To analyze the results of patients with chromosome abnormality by chromosomal microarray, and validate and depict patient′s karyotype.Methods Genotyping array was applied to assess in 9 patients with hypophrenia and deformity.The samples with karyotype analysis abnormality were determined.Comparison between karyotyping and microarray analysis was considered to validate the clinical utility of chromosomal microarray analysis. Results Two Turner syndrome patients had completely concordant results from karyotype analysis and chromosomal microarray.Three patients showed abnormal karyotyping results (2 patients with excess trabant and 1 patients with chromosomal inversion) were detected negative with chromosomal microarray.Four patients with different size and location of deletions and duplication were also detected abnormal with chromosome microarray,but with significant deviation on location.Conclusions Compared with chromosomal microarray analysis,karyotype analysis has low accuracy in diagnosing patients with hypophrenia and deformity.The abilities of locating and reckoning chromosomal deletion and duplication by chromosomal microarray are insufficient for clinical diagnostic purpose,but karyotype analysis is still efficient in detecting balanced changes in chromosome.
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