染色体微阵列分析在染色体核型分析无法明确诊断病例中的应用价值

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、Wolf-Hirschhorn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。

Clinical Application of Chromosomal Microarray Analysis in Karyotyping with Uncertain Genomic

Objective To apply chromosomal microarray analysis (CMA) in the diagnosis of karyotyping with uncertain genomic rearrangement. Methods We retrospectively reviewed 48 samples （34 samples of amniotic fluid，14 samples of peripheral blood） of karyotype analyses with uncertain genomic rearrangement in patients admitted to our department from September 2014 to April 2016. The CMA results were compared with those of karyotyping. Results The 48 samples consisted of 13 samples with marker chromosomes, 19 samples with derivative chromosomes, and 16 samples with balanced translocation. Sixteen cases (33.33%) were detected with abnormalities by CMA. In the 32 samples with marker chromosomes or derivative chromosomes, 16 cases were detected with deletions or duplications (>5 Mb) by CMA, including 1 case 21-trisomy, 2 cases XYY syndrome and 3 cases microdeletion/ microduplication syndromes (22q11 duplication syndrome, Wolf-Hirschhorn syndrome and 15q26 overgrowth syndrome). In the 16 balanced translocation cases, all revealed negative results in CMA. Conclusion CMA can confirm the karyotyping with uncertain genomic rearrangement and clarify its clinical significance.