Primary Investigation for Copy Number Variation Detection in Genetic Diseases with Medical Exome Sequencing

VernacularTitle:医学外显子组测序检测遗传病拷贝数变异的初步探索
Author: Yan ZHANG ¹ ; Ying-tong SUN ² ; Yi-ming XU ² ; Hong-ke DING ¹ ; Victor-wei ZHANG ² ; Ai-hua YIN ¹
Author Information

1. Center for Medical Genetics，Guangdong Women and Children Hospital，Guangzhou 511442，China
2. AmCare Genomics Laboratory，Guangzhou 510300，China
Publication Type:Journal Article
From: Journal of Sun Yat-sen University(Medical Sciences) 2019;40(1):144-149
CountryChina
Language:Chinese
Abstract: 【Objective】To investigate the value of medical exome sequencing in copy number variation detection in genetic diseases. 【Methods】 Here we tested two separated cases. There are no similar symptoms except intelligent disability between the cases. Fragile X syndrome，G-banding，chromosome microarray and medical exome sequencing were sequenced tested for the two cases and their parents. 【Results】We found the copy number variants in both of the patients from the two families，which distributed from 11.4 kb to 13.03 Mb in size. The copy number variants were all verified by other technologies. 【Conclusion】 medical exome sequencing is useful for the detection of copy number variation in genetic diseases，although the value still need more verification.