中文摘要：

基因组拷贝数变异可导致基因组病,是复杂性疾病和遗传病的原因之一.因其临床诊断相对困难,故开展此类疾病的遗传学研究和分子诊断显得尤为重要.全基因芯片扫描分析技术（CMA）可以在全基因组范围内同时检测染色体拷贝数变异,因其通量大、分辨率高,被认为是诊断基因组疾病的重要手段之一.随着CMA技术水平的日益提高和临床经验积累,CMA已在多发畸形、智力落后、自闭症等病因诊断中提供了重要的价值.

英文摘要：

Copy number variations in the human genome,one of the causes of complex diseases and genetic diseases,can lead to genomic disorders.As these diseases are difficult to diagnose,it is significantly meaningful to conduct genetic researches and molecular diagnosis.Chromosomal microarray can be used to detect copy number variations on a genome-wide scale.With the advantage of high throughput and resolution,chromosomal microarray is perceived as an important means of identifying copy number variations in genomic disorders.As technology advancements of chromosomal microarray and accumulations of clinical experiences,chromosomal microarray has played a significant role in etiological diagnosis of multiple malformations,mental retardation and autism.