Identification and analysis of small supernumerary marker chromosomes in Turner syndrome patients
Objective To investigate the identification and analysis of small supernumerary marker chromosomes(sSMC)by chromo-somal karyotype analysis combined with fluorescence in situ hybridization(FISH)and chromosomal microarray analysis(CMA)in patients with Turner syndrome(TS),and predict the karyotypes of sSMC.Methods A total of five children diagnosed with TS by chromosomal karyotype analysis from January 2020 to December 2022 were selected.FISH and CMA were used to analyze the origin and structural composition of sSMC.Results FISH results indicated that the origin of sSMC was identified in all 5 patients with TS,two from Y chromosome and three from X chromosome,and all of them were chromosomal mosaicism.CMA results indicated that all five children had abnormal copy number variation,among which two children had amplification of Y chromosome fragments,two children had deletion of X chromosome fragments,and one child had deletion of entire X chromosome.According to the results of chromosomal karyotype analysis,FISH and CMA,the chromosomal karyotypes of sSMC were successfully predicted in 4 of 5 patients,except one case of low level of chromosome mosaicism.Conclusion The combination of chromosomal karyotype analysis,FISH and CMA can accurately predict the karyotypes of sSMC,but it cannot be predicted when the level of chromosome mosaicism is very low.
万方数据
维普
