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目的探讨染色体微阵列分析(chromosomal microarry analysis,CMA)在染色体核型分析无法明确诊断病例中的临床应用价值。方法回顾性分析我院自2014年9月至2016年4月因染色体核型分析不能明确诊断而进一步进行CMA的48例病例(34例羊水标本,14例外周血标本),对两种方法的检测结果进行比较。结果 48例病例中,核型分析提示13例为标记染色体,19例为衍生染色体,16例为染色体平衡易位。CMA共检出异常病例16例,异常率为33.33%。32例核型分析提示为标记染色体或衍生染色体的病例,CMA检测出大于5 Mb的缺失或重复16例,包括1例21-三体、2例XYY综合征及3例微重复/微缺失综合征(22q11重复综合征、WolfHirschhorn综合征及15q26过度生长综合征)。16例核型分析为染色体平衡易位的病例,CMA均未发现阳性结果。结论 CMA可以明确定位核型分析发现的标记染色体或衍生染色体的来源,精确区分染色体不平衡易位和平衡易位。
Objective To investigate the clinical value of chromosomal microarry analysis (CMA) in the case of chromosomal karyotype analysis that can not be clearly diagnosed. Methods A retrospective analysis of our hospital from September 2014 to April 2016 due to karyotype analysis can not be clearly diagnosed further CMA 48 cases (34 cases of amniotic fluid samples, 14 cases of peripheral blood specimens), the two methods The test results are compared. Results Among the 48 cases, karyotype analysis revealed that 13 cases were labeled chromosomes, 19 cases were derived chromosomes and 16 cases were chromosome-balanced translocations. CMA detected 16 cases of abnormal cases, the abnormal rate was 33.33%. Twenty-two cases of karyotype analysis suggested that the markers were chromosomes or derived chromosomes. CMA detected 16 cases of deletion or duplication greater than 5 Mb, including 1 case of 21-trisomy, 2 cases of XYY syndrome and 3 cases of micro-duplication / microdeletion Sign (22q11 repeat syndrome, Wolf Hirschhorn syndrome and 15q26 overgrowth syndrome). 16 cases of karyotype analysis of cases of chromosomal equilibrium translocation, CMA did not find positive results. Conclusion CMA can clearly locate the source of labeled chromosomes or derived chromosomes detected by karyotype analysis and accurately distinguish between chromosomal unbalanced translocations and balanced translocations.