摘要
目的对1例超声提示胼胝体缺如的胎儿进行介入性产前诊断,探讨其遗传学病因。方法选取2022年12月16日于莆田学院附属医院就诊的1例孕妇作为研究对象。采集胎儿的羊水及其父母的外周血样,进行常规染色体G显带核型分析,并联合采用单核苷酸多态性微阵列芯片(SNP-array)技术进行全基因组拷贝数变异分析。结果胎儿及其父母的染色体核型均未见异常,但羊水SNP-array检测提示胎儿染色体18q21.2q21.31区存在4.5 Mb的片段缺失,胎儿父母外周血SNP-array检测均未发现异常。结论通过G显带染色体核型分析及SNP-array检测检出了1例18q21.2q21.31微缺失胎儿,确诊其为Pitt-Hopkins综合征,为孕妇的遗传咨询提供了依据。
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.
作者
张艳
曾丽娜
林荔
董娴
林堃
陈煌辉
Zhang Yan;Zeng Li′na;Lin Li;Dong Xian;Lin Kun;Chen Huanghui(Center of Prenatal Diagnosis,the Affiliated Hospital of Putian College,Putian,Fujian 351100,China;General Surgery,Putian No.95 Hospital of China Rongtong Medical and Health Group,Putian,Fujian 351100,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2024年第5期622-625,共4页
Chinese Journal of Medical Genetics
基金
福建省中青年教师教育科研项目(JAT200536)。
