摘要
目的探讨染色体微阵列分析技术（chromosomal microarry analysis，CMA）在检查核型分析未见异常的智力低下／发育迟滞（intellectual disability／developmental delay，ID／DD）患儿方面的应用价值。方法选取92例智力低下／发育迟滞患儿，采用美国Affymetrix公司生产的CytoScan750K芯片对其外周血进行CMA检测，并采用ChASv3．0软件对结果进行分析。结果在92例患儿中，CMA共检出异常18例，异常率为19．57％。其中染色体微缺失／微重复综合征10例，包括Williams—Beuren综合征2例、Angelman综合征2例、Russell—Silver综合征2例、Smith—Magenis综合征1例、Wolf-Hirschhorn综合征1例、15q26过度生长综合征1例，以及Xq28（MECP2）重复综合征1例，另检出具有临床意义的拷贝数变异（pathogenic copy number variation，pCNV）8例。结论CMA可以明显提高ID／DD患儿遗传学病因的诊断率，对于患儿的治疗及其父母的再生育具有重要的指导意义，因此可作为ID／DD患儿的一线诊断方法。
Objective To assess the value of chromosomal microarray analysis （CMA） for the diagnosis of children with intellectual disability/developmental delay （ID/DD） but a normal karytype. Methods Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3. 0 software. Results Eighteen cases （19.57%） were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes,2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 （MECP2） duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations （pCNV）. Conclusion CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2017年第2期169-172,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（81270660）
四川省科技厅支撑项目（2012SZ0136）
关键词
染色体微阵列分析
拷贝数变异
单亲二体
智力低下
发育迟滞
Chromosomal microarry analysis
Copy number variation
Uniparental disomy
Intellectual disability
Developmental delay
