中国妇幼健康研究2024，Vol.35Issue(4)：97-102,6.DOI:10.3969/j.issn.1673-5293.2024.04.015
染色体微阵列分析技术对16p11.2综合征的诊断及遗传学分析
Diagnosis and genetic analysis of 16p11.2 syndrome by chromosome microarray analysis technology
摘要
Abstract
Objective To investigate clinical symptoms and genetic variations of patients with 16p11.2 microdeletion/microduplication syndrome by using chromosomal microarray analysis(CMA)technology.Methods Clinical indications,genetic results,family investigation and pregnancy outcome of patients with 16p11.2 syndrome who received CMA testing in Ningbo Municipal Women and Children's Hospital from January 2019 to August 2022 were descriptively analyzed.Results 22 patients(20 fetuses,2 children)had copy number variation in core region of 16p11.2,and overall detection rate of 16p11.2 syndrome was 0.226％.Among them,there were 8 fetuses with ultrasonic abnormalities(2 cases of spinal dysplasia,1 case of urinary system abnormality,3 cases of thickened nuchal translucency(NT),2 cases of enhanced intestinal echos),3 cases had abnormal results of non-invasive prenatal testing(NIPT),4 cases were at high-risk of 16p11.2 syndrome by serological screening,and 4 cases had advanced(elderly)pregnancies.Of 22 patients,10 patients underwent parental verification,among which 7 cases were new mutations,2 cases were inherited from the mother and 1 case was inherited from the father.There was also one case of abnormal fetal karyotype,which was verified to be inherited from the mother.Among these 20 fetuses,9 fetuses were born live,1 fetus was diagnosed as congenital heart disease(CHD)and language retardation,and the rest had no abnormalities in growth and development.Two patients who carried missing fragments presented with generalized tonic-clonic seizures,one of which was accompanied by growth retardation.Conclusion Patients with 16p11.2 syndrome have abnormalities in bone,heart,nervous system,urinary system and language development,and their clinical phenotypes are heterogeneous and diverse,and a large amount of clinical data needs to be accumulated for prenatal diagnosis.关键词
16p11.2/染色体微阵列/产前诊断/临床表型/微缺失/微重复Key words
16p11.2/chromosomal microarray/prenatal diagnosis/clinical phenotype/microdeletion/microduplication分类
医药卫生引用本文复制引用
韩春晓,张玉鑫,刘颖文,李海波..染色体微阵列分析技术对16p11.2综合征的诊断及遗传学分析[J].中国妇幼健康研究,2024,35(4):97-102,6.基金项目
宁波市社会发展公益领域面上项目(2023Z178) （2023Z178）
宁波市社会公益项目(2022S035) （2022S035）
宁波市医疗卫生高端团队项目(20220405) （20220405）
