Prenatal diagnosis and follow-up of two cases of children with 18q terminal deletion
- VernacularTitle:18q远端缺失患儿的产前诊断及随访2例
- Author:
Lifang ZHANG
1
;
Tingting LUO
1
;
Feiyan QIAN
1
;
Weiping CHEN
1
;
Jiaming FAN
1
;
Ming CHE
1
;
Yan ZENG
1
;
Tao ZHANG
1
Author Information
- Publication Type:Journal Article
- Keywords: Chromosome deletion; Prenatal diagnosis; Chromosomes, human, pair 18; Developmental disabilities; Genetic counseling
- From: Chinese Journal of Perinatal Medicine 2025;28(11):978-980
- CountryChina
- Language:Chinese
- Abstract: This study reported two cases of distal 18q deletions identified through non-invasive prenatal testing (NIPT). Case 1 harbored a de novo 20.4 Mb deletion of 46, XY, del(18) (q21.32q23), classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Follow-up at five years of age revealed global developmental delay, congenital heart disease, and distinct facial features. Case 2 had a 5.71 Mb paternal-origin deletion of 46,XX,del(18)(q22.1q22.2), with only mild tricuspid regurgitation detected at eight months of age. These phenotypic discrepancies demonstrated that the clinical manifestations of 18q deletion syndrome were closely associated with the size of the deleted segment and the involved critical genes. Therefore, individualized genetic counseling and long-term follow-up were necessary for the affected children.
