摘要
目的探讨22号染色体q11.2微重复胎儿基因型-临床表型的对应关系,为临床遗传咨询提供依据。方法选取具备产前诊断指征并行羊水穿刺产前诊断,单核苷酸多态性微阵列(SNP-array)技术提示为22号染色体q11.2微重复的10例胎儿,对产前诊断指征、胎儿超声检查结果、父母SNP-array验证结果、随访妊娠结局及出生后的生长发育情况进行回顾性分析。结果10例胎儿SNP-array产前诊断结果显示22号染色体q11.2区存在268 kb~3.2 Mb的重复,除3例胎儿父母拒绝溯源验证外,4例来自表型正常的父母一方,3例为新发突变。选择性引产2例,继续妊娠8例。随访6例胎儿出生后生长发育无异常,1例生长发育迟缓,1例出生后失访。结论22号染色体q11.2微重复产前表型多样,需结合产前超声表型及父母溯源验证结果进行临床遗传咨询。
Objective To explore the relationship between fetal genotype and clinical phenotype with 22q11.2 microduplication,and to provide evidence for clinical genetic counseling.Methods 10 fetuses with prenatal diagnosis indications and amniocentesis were selected who had undergone prenatal diagnosis.The single nucleotide polymorphism arrays(SNP-arrays)suggested that they were microsomal repeats of 22q11.2.The prenatal diagnosis indications,fetal ultrasound results,and parents′SNP-array verification results were selected follow up pregnancy outcomes and postnatal growth and development were retrospectively analyzed.Results The results of prenatal diagnosis of 10 fetuses with SNP-array revealed a 268kb to 3.2Mb duplication in the 22q11.2 region.Except for 3 cases where the parents of the fetuses refused traceability verification,4 cases were from parents with normal phenotypes,and 3 cases were new mutations.There were 2 cases of selective abortion and 8 cases of continuous pregnancy.Six fetuses were followed up with no abnormalities in postnatal growth and development,one with growth retardation,and one with postnatal loss of follow-up.Conclusion The phenotypes of 22q11.2 are diverse before micro pregnancy,and clinical genetic counseling should be conducted in combination with prenatal ultrasound phenotypes and parental traceability verification results.
作者
詹福寿
魏波
马一婧
宋旭梅
芮淑贤
霍正浩
ZHAN Fushou;WEI Bo;MA Yijing;SONG Xumei;RUI Shuxian;HUO Zhenghao(The Clinical Laboratory Center,General Hospital of Ningxia Medical University,Yinchuan 750004,China;The Prenatal Diagnosis Center,General Hospital of Ningxia Medical University,Yinchuan 750004,China;Key Lab of Fertility Preservation in Chinese Ministry of Education,Ningxia Medical University,Yinchuan 750004,China)
出处
《宁夏医学杂志》
CAS
2023年第7期588-591,共4页
Ningxia Medical Journal
基金
宁夏自然科学基金(2021AAC03363)
宁夏回族自治区重点研发计划(2021BEG03068)。
