Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion
10.3760/cma.j.cn511374-20230428-00254
- VernacularTitle:18q21.2q21.31微缺失致Pitt-Hopkins综合征胎儿的遗传学分析
- Author:
Yan ZHANG
1
;
Li′na ZENG
;
Li LIN
;
Xian DONG
;
Kun LIN
;
Huanghui CHEN
Author Information
1. 莆田学院附属医院产前诊断中心，莆田 351100
- Keywords:
18q21.2q21.31 microdeletion;
Prenatal diagnosis;
Pitt-Hopkins syndrome;
Single nucleotide polymorphism array;
Agenesis of corpus callosum
- From:
Chinese Journal of Medical Genetics
2024;41(5):622-625
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To carry out invasive prenatal diagnosis for a fetus with ultrasound-indicated agenesis of corpus callosum and explore its genetic etiology.Methods:A pregnant woman presented at the Affiliated Hospital of Putian College on December 16, 2022 was selected as the study subject. Amniotic fluid and peripheral blood samples from the fetus and the couple were collected. Conventional G-banded chromosomal karyotyping was carried out, and whole-genome copy number variation analysis was performed using single nucleotide polymorphism microarray (SNP-array).Results:The karyotypes of the fetus and the couple were normal by the G-banding analysis. SNP-array analysis of the amniotic fluid sample revealed a 4.5 Mb microdeletion in the 18q21.2q21.31 region of the fetus. SNP-array analysis of peripheral blood samples from the couple did not find any abnormality.Conclusion:Through G-banded chromosomal karyotyping and SNP-array analysis, a fetus with 18q21.2q21.31 microdeletion was identified, which has conformed to the diagnosis of Pitt-Hopkins syndrome. Above finding has provided a basis for genetic counseling for the couple.
