Identification of 1q21.1 microduplication in a family:A case report  

作　　者：Ting-Ting Huang Hai-Feng Xu Shang-Yu Wang Wen-Xin Lin Yie-Hen Tung Kaleem Ullah Khan Hui-HuiZhang Hu Guo Guo Zheng Gang Zhang 

机构地区：[1]Department of Neurology,Children’s Hospital of Nanjing Medical University,Nanjing 210000,Jiangsu Province,China [2]Nanjing Medical University,Nanjing 210000,Jiangsu Province,China [3]Nanjing Xiaozhuang University Experimental Primary School,Nanjing 210000,Jiangsu Province,China

出　　处：《World Journal of Clinical Cases》2023年第4期874-882,共9页世界临床病例杂志

摘　　要：BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders,autism spectrum disorders,congenital malformations,and congenital heart defects with genetic heterogeneity.CASE SUMMARY We reported a pediatric patient with 1q21.1 microduplication syndrome,and carried out a literature review to determine the correlation between 1q21.1microduplication and its phenotypes.We summarized the patient’s medical history and clinical symptoms,and extracted genomic DNA from the patient,her parents,elder brother,and sister.The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period.Whole exon sequencing and whole genome low-depth sequencing(CNV-seq)were then performed.Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region,which was located in the 1q21.1 region.Family analysis showed that the pathogenetic duplication fragment,which was also detected in her elder brother’s DNA originated from the mother.CONCLUSION Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome,which is of great significance for genetic counseling and early intervention.

关 键 词：1q21.1 microduplication syndrome EPILEPSY Copy number variation FAMILIAL Whole exon sequencing Congenital developmental disorders Case report 

分 类 号：R73[医药卫生—肿瘤]