Prenatal diagnosis and genetic analysis of 18q deletion syndrome
- VernacularTitle:18q缺失综合征的产前诊断及遗传学分析
- Author:
Menghua XIONG
1
;
Chunyan LI
1
;
Yajuan GAO
1
;
Jia LI
1
;
Yinghui DANG
1
Author Information
- Publication Type:Journal Article
- Keywords: 18q deletion syndrome; chromosomal microarray analysis(CMA); prenatal diagnosis
- From: Journal of Xi'an Jiaotong University(Medical Sciences) 2025;46(6):1002-1006
- CountryChina
- Language:Chinese
- 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.
