西安交通大学学报（医学版）2025，Vol.46Issue(6)：1002-1006,5.DOI:10.7652/jdyxb202506017
18q缺失综合征的产前诊断及遗传学分析
Prenatal diagnosis and genetic analysis of 18q deletion syndrome
熊梦华 1李春艳 1高亚娟 1李佳 1党颖慧1
作者信息
- 1. 空军军医大学第一附属医院妇产科,陕西西安 710032
- 折叠
摘要
Abstract
Objective To investigate the application of chromosome microarray analysis(CMA)in prenatal diagnosis of 18q deletion syndrome and to analyze the genotype-phenotype correlation of 18q deletion syndrome.Methods Prenatal diagnosis of three fetuses with 18q deletion syndrome was conducted through amniotic fluid karyotype analysis and CMA.Results Karyotype analysis results of the three fetuses were 46,XY,del(18)(q22);46,XY,-18,+mar;and 46,XX,del(18)(q21.2),respectively.The results of CMA showed that Case 1 had a deletion of 10.0 Mb in the 18q22.2q23 region,Case 2 had a deletion of 5.5 Mb in the 18p11.32p11.31 region and a deletion of 20.9 Mb in the 18q21.32q23 region,and Case 3 had a deletion of 24.1 Mb in the 18q21.2q23 region.Therefore,all the three fetuses had 18q deletion syndrome.Conclusion As a molecular diagnostic technique,CMA can accurately detect the location and size of pathogenic chromosome copy number,and identify the pathogenic genes.It can provide useful evidence for prenatal diagnosis and genetic counseling of 18q deletion syndrome.关键词
18q缺失综合征/染色体微阵列分析(CMA)/产前诊断Key words
18q deletion syndrome/chromosomal microarray analysis(CMA)/prenatal diagnosis分类
临床医学引用本文复制引用
熊梦华,李春艳,高亚娟,李佳,党颖慧..18q缺失综合征的产前诊断及遗传学分析[J].西安交通大学学报（医学版）,2025,46(6):1002-1006,5.
