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.
国家科技期刊平台
NSTL
万方数据
