Genetic mode analysis of fetuses with terminal non-balanced chromosomal translocation using CNV-seq combined with G-banding karyotyping
Aim:To analyze the incidence and genetic mode of terminal non-balanced chromosomal translocation in prenatal and miscarriage fetuses through Copy Number Variation sequencing(CNV-Seq)and G-banding karyotyping.Meth-ods:CNV-Seq was used to analyze fetuses with terminal non-balanced chromosomal translocation in the First Affiliated Hos-pital of Zhengzhou University from June 2018 to December 2021.Parental origin analysis was conducted using parental pe-ripheral blood G-banding karyotyping or FISH detection.Results:Among 17 248 prenatal and abortive cases,88 cases(0.51%)were terminal non-balanced chromosomal translocation,among whom,59 cases chose parental G-banding karyo-type analysis or FISH detection,54.24%cases(32/59)parents were balanced translocation karyotype,and 45.76%cases(27/59)parents were normal karyotype,and fetuses were de novo mutation.Conclusion:Fetuses with terminal non-bal-anced chromosomal translocation should undergo G-banding karyotyping or FISH testing for the parents to improve the detec-tion of balanced translocation.
copy number variation detectionterminal non-balanced chromosomal translocationG-banding karyotyping
万方数据
维普
