16p11.2微缺失胎儿的产前超声表现及遗传学分析  

Prenatal ultrasonographic manifestations and genetic analysis of eight fetuses with 16p11.2 microdeletions

作　　者：蔡美英[1] 黄海龙[1] 林娜[1] 苏林涓[1] 吴小青[1] 谢晓蕊[1] 李英[1] 徐两蒲[1] Cai Meisying;Huang Hailong;Lin Na;Su Linjuan;Wu Xiaoqing;Xie Xiaorui;Li Ying;Xu Liangpu(Fujian Maternity and Child Health Hospital,The Affiliated Hospital of Fujian Medical University,Fujian Key Laboratory for Prenatal Diagnosis and Birthi Defect,Fuzhou,Fujian 350001,China)

机构地区：[1]福建省妇幼保健院,福建医科大学附属医院,福建省产前诊断与出生缺陷重点实验室,福州350001

出　　处：《中华医学遗传学杂志》2022年第2期227-230,共4页Chinese Journal of Medical Genetics

基　　金：福建省自然科学基金(2017J01238)。

摘　　要：目的分析8例16p11.2微缺失胎儿的临床资料和遗传学检测结果, 探讨其宫内的表型特征与基因型的关系。方法应用单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP-array)对8例胎儿进行检测, 并分析其16p11.2微缺失产前超声的特点。结果 SNP-array检测结果显示8例胎儿均有16p11.2区域的拷贝数(copy number variations, CNVs)缺失, 其中6例胎儿存在500 ~ 600 kb的典型缺失, 2例胎儿在16p11.2末端区域存在约220 kb的非典型性缺失。4例胎儿表现为脊柱异常, 2例存在左侧脑增宽, 1例表现为脑积水, 1例表现为肺动脉瓣狭窄伴关闭不全。除3例胎儿的父母拒绝家系验证外, 5例胎儿的16p11.2区域的CNVs的缺失均为新发变异。结论 16p11.2微缺失胎儿的超声特征表现不一, 胎儿宫内的表型特征与基因型有一定关联。Objctive To analyze the intrauterine phenotype and genotype of eight fetuses carrying a 16p11.2 microdeletion.Methods 5100 fetuses undergoing routine prenatal diagnosis were subjected to single nucleotide polymorphism-based microarray(SNP-array)analysis.Fetuses harboring a 16p11.2 microdeletion were analyzed for their ultrasonographic characteristics.Results Eight fetuses were found to harbor a microdeletion in the 16p11.2 region.Among these,six had a typical 500-600 kb deletion,while the remaining two had an atypical 220 kb deletion at the distal part of 16p11.2.Four fetuses showed vertebral malformations,two had mild left ventriculomegaly,one had hydrocephalus,and one had pulmonary valve stenosis with regurgitation.The parents of five fetuses have accepted pedigree verification,and the results confirmed that the 16p11.2 microdeletions carried by fetuses all had a de novo origin.Conclusion The intrauterine phenotypes of fetuses carrying a 16p11.2 microdeletion may be variable,and the deletion can be effectively detected with the SNP-array assay.

关 键 词：16p11.2微缺失 超声特点 单核苷酸多态性微阵列 遗传学分析 

分 类 号：R714.5[医药卫生—妇产科学]