【Objective】 To apply the array comparative genomic hybridization(a CGH) technology to the diagnosis of large chromosome fragment repetition of fetus with prenatal ultrasonic abnormity. 【Methods】 The fetus health condition was checked and analyzed by ultrasonic testing, and fetal exfoliated cell samples were obtained by amniocentesis. Subsequently, genome-wide high resolution scanning results of the samples were obtained through a CGH, and further diagnosis and prediction of related diseases were made. 【Resu...
拷贝数目变异(copy number variants,CNVs)即染色体片段的重复或缺失,指与参考基因组相比,拷贝数存在差异且增加或减少的碱基数目>1 kb的DNA片段[1],是一种十分普遍的染色体数目变异,并且很多染色体数目的变异都与疾病直接相关。最近研究表明,CNVs在人类疾病的病因学中具有重要
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