Clinical diagnosis and molecular genetic analysis of 15 fetuses with Xp22.3 microdeletion/microduplication
Objective:To explore the correlation between the genotype of Xp22.3 microdeletion/microduplication of fe-tuses and their clinical phenotype.Methods:A retrospective study was conducted on the molecular genetic characteris-tics,the clinical phenotype,and the follow-up information of 15 fetuses with Xp22.3 microdeletion/microduplication based on results of their SNP-array detection.Results:Among the 15 fetuses,there were 8 cases with Xp22.3 microde-letion,with the fragment sizes ranging from 165Kb to 5.1Mb.The genes in the fragment sizes included 30 OMIM genes,such as SHOX,ARSE,STS,ANOS1,NLGN48/15X and GPR143,and among which,the genes of SHOX,ARSE,STS,and ANOS1 were the single dose deficient genes.There were 7 cases with Xp22.3 microduplication,with the fragment sizes ranging from 229Kb to 1.7Mb.The genes in the fragment sizes included 23 OMIM coding genes,such as SHOX,ARSE,ANOS1,STS,NLGN4X and GPR143.and among which,the genes had no triple dose sensi-tive genes.Among 8 fetuses with microdeletion,7 cases were diagnosed as the pathogenic copy number variant(CNV),and 1 was diagnosed as the variables of unknown significance(VOUS).7 fetuses with microduplication were diagnosed as VOUS.Among 15 fetuses with Xp22.3 microdeletion/microduplication,there were 7 cases with abnor-mal features detected by ultrasound,including 3 cases with abnormal skeletal development(short limbs),1 case with cleft lip and palate,1 case with cardiovascular abnormalities,1 case with widened lateral ventricle and 1 case with the nasal bone absent.Parent source verification was conducted on 14 fetuses,including 5 cases from maternal inheritance and 3 cases from paternal inheritance.Among 15 fetuses with Xp22.3 microdeletion/microduplication,4 cases with microdeletion had chosen to terminate pregnancy and 1 case had missed miscarriage,and all of which were male fetu-ses.Among 15 fetuses with Xp22.3 microdeletion/microduplication,10 cases had chosen to continue pregnancy,and except 1 newborn with hearing loss in the right left ear,and the other newborn showed no abnormalities during follow-up.Conclusion:Xp22.3 microdeletion is a pathogenic CNV due to its involvement in single dose sensitive genes,such as SHOX,ARSE,STS,and ANOS1.The newborns with Xp22.3 microdeletion present with the symptoms such as the delayed growth and development and the chondrodysplasia,and so on.The newborns with Xp22.3 microduplication have on triple dose sensitive gene,which is defined as VOUS,and the prognosis of the newborns is good.The Xp22.3 microdeletion/microduplication of the fetuses is diagnosed by SNP-array,the correlation between the genomic informa-tion of the fetuses and their clinical phenotype should be analyzed,so as to provide guidance for the pregnant women.
ChromosomeXp22.3 microdeletion/microduplicationSNP arrayCopy number variation
万方数据
维普
