Genetic study on the genomic copy number variation in children with developmental delay
Objective To analyze the detection results of genomic copy number variation(CNV)in children with developmental delay,to identify genetic causes for the affected children.Methods From March 2018 to March 2023,260 children with developmental delay who treated in Liaocheng Dongchangfu District Maternal and Child Health Hospital were selected as the research subjects,and CNV was detected by low-depth whole genome sequencing(CNV-seq)technology,and the detection condition of pathogenic/possibly pathogenic CNV was analyzed.Results Among 260 children with developmental delay,a total of 46 cases of pathogenic CNV were detected,accounting for 17.69％,and 3 cases were possibly pathogenic CNV,accounting for 1.15％,the abnormal detection rate was 18.85％,and 48 cases of CNV with unknown significance were detected,accounting for 18.46％,the total positive rate was 37.31％.Among the pathogenic/possibly pathogenic CNV,the most commonly detected diseases include Down syndrome(7 cases),16p1 1.2 deletion syndrome(4 cases),Angelman/Prader-Willi syndrome(4 cases),DiGeorge syndrome(3 cases),9p terminal deletion syndrome(2 cases)and cri-du-chat syndrome(2 cases);6 cases of undefined syndrome or disease regions with pathogenic deletions/duplications fragments not defined in the database were also detected.Conclusion CNV was an important cause of children's developmental delay,in which deletion accounted for a large proportion,and large fragment abnormality was more likely to cause disease.CNV-seq could be applied to the diagnosis and prenatal diagnosis of children with developmental delay and prenatal diagnosis,in order to provide assistance for the clinical diagnosis of children with developmental delay.
Developmental delayCopy number variationLow-depth whole genome sequencing
NETL
NSTL
万方数据
