Prenatal diagnosis and genetic analysis of 5 fetuses with 16p13.11 microduplication
Objective To conduct prenatal diagnosis and genetic analysis of 5 fetuses with copy number variants(CNVs)in region 16p13.11.Methods From September 2019 to December 2022,routine chromosome G-banding and single nucleotide polymorphism array(SNP array)detection were performed on 5 fetal amniotic fluid samples with different prenatal diagnostic indications at the First Affiliated Hospital of Fujian Medical University.A retrospective analysis was conducted on fetal genetics diagnosed as 16p13.11 microduplication.Results The karyotype analysis results of 5 fetuses showed no abnormalities;the SNP array results showed that there were846.1～1 600 kb microduplication in the16p13.11 region,involving a total of 6 OMIM genes such as NDE1,ABCC6,MYH11,etc;two of them did not undergo genetic tracing,while the other three fetuses inherited paternal or maternal 16p13.11 microrepeats were delivered full term,and no abnormality was found in the follow-up.Conclusion Prenatal diagnosis of 16p13.11 fragment microduplication has incomplete penetrance of phenotype and lack of specific phenotypes.
16p13.11copy number variationSNP arrayprenatal diagnosis
NETL
NSTL
万方数据
