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两例2p15-p16.1微缺失综合征的产前诊断

Prenatal diagnosis of two cases with 2pl5-pl6.1 microdeletion syndrome
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摘要 目的明确2例畸形流产患儿染色体拷贝数变异,分析引起2p15-p16.1缺失综合征畸形表型的相关基因以及关键区域。方法应用染色体微阵列分析(chromosomal microarray analysis,CMA)技术对畸形流产儿全基因组拷贝数目进行检测,并用计算机软件及生物信息学方法进行分析。结果CMA检测到2例患儿的染色体2p15-16.1区段有约255 kb的DNA拷贝数变异,2例患儿表型符合2p15-p16.1微缺失综合征遗传特征,缺失区域包含XPO1和USP34基因。结论2pl5近端73 kb的片段(chr2:61659957〜61733075,hg19)可能是引起2p15-p16.1微缺失综合征畸形表型的关键区域之一,XPO1和USP34为该缺失综合征的候选基因。 Objective To detect chromosomal aberrations in two fetuses with multiple malformation.Methods The two fetuses were subjected to chromosomal microarray analysis(CMA)by using Affymetrix CytoScan 750K arrays.The results were analyzed by bioinformatic software.Results CMA analysis suggested that both fetuses harbored pathogenic copy number variations(CNVs)in the 2p15-16.1 region,which ranged from 255 kb to 257 kb and encompassed the XPO1 and USP34 genes.Conclusion Deletion of the chr2(61659957-61733075,hg19)encompassing the XPO1 and USP34 genes may underlie the multiple malformations in the two fetuses.
作者 万婷 王晶 商宇伟 刘建兵 虞斌 顾建东 袁珮 Wan Ting;Wang Jing;Shang Yuivei;Liu Jianbing;Yu Bin;Gu Jiandong;Yuan Pei(Prenatal Diagnosis Center,Changzhou Maternity and Child Health Care Hospital A ffiliated to Nanjing Medical University,Changzhou,Jiangsu 213003,China;Changzhou Second People's Hospital Affiliated to Nanjing Medical University,Changzhou Jiangsu 213003,China)
机构地区 南京医科大学附属常州妇幼保健院产前诊断中心 南京医科大学附属常州第二人民医院
出处 《中华医学遗传学杂志》 CAS CSCD 2020年第2期186-189,共4页 Chinese Journal of Medical Genetics
基金 江苏省重点研发计划(社会发展)(BE2017650) 常州市科技支撑计划(社会发展)(CE20175021),常州市卫生和计划生育委员会重大项目(ZD201613) 常州市高技术研究重点实验室项目(CM20193009)。
关键词 2pl5-pl6.1微缺失综合征 染色体微阵列分析 XPO1基因 USP34基因 2p15-p16.1 microdeletion syndrome Chromosomal microarray analysis XPO1 gene USP34 gene
分类号 R714 [医药卫生—妇产科学]
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中华医学遗传学杂志
2020年 第2期

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