一例嵌合型8号三体综合征患儿的临床及遗传学分析  

Clinical and genetic analysis of a child with mosaic chromosome 8 trisomy syndrome

作　　者：姜博 白莹[2] 孙玥 时盼来 唐文强[1] 彭韶[3] 孔祥东[2] Jiang Bo;Bai Ying;Sun Yue;Shi Panlai;Tang Wenqiang;Peng Shao;Kong Xiangdong(Central Laboratory,Liaocheng People′s Hospital,Liaocheng,Shandong 252000,China;Genetics and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450002,China;Department of Pediatrics,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450002,China)

机构地区：[1]聊城市人民医院中心实验室,聊城252000 [2]郑州大学第一附属医院遗传与产前诊断中心,郑州450002 [3]郑州大学第一附属医院儿科,郑州450002

出　　处：《中华医学遗传学杂志》2022年第12期1402-1405,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81501851)。

摘　　要：目的:探讨一例复发性口腔溃疡患儿的遗传学病因。方法:收集患儿的临床资料,采集患儿及其父母的外周血样,对患儿进行全外显子组测序,并应用低深度全基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)技术进行家系验证。结果:患儿为女性,6岁龄,主要表现为反复发热、口腔溃疡、外阴和肛周溃疡。全外显子组测序未发现致病变异,对测序数据进行染色体拷贝数分析发现患儿为嵌合型8号三体,CNV-seq验证其嵌合比例为73%,患儿父母检测均未见异常。结论:确诊了一例以复发性口腔溃疡为首发症状的嵌合型8号三体综合征患儿,丰富了该综合征的表型谱。Objective To explore the genetic etiology of a child featuring recurrent oral ulcer.Methods Clinical data of the child was collected.Whole exome sequencing was carried out for her.Candidate variant was verified by low-coverage massive parallel copy number variation sequencing(CNV-seq)of the family trio.Results The child,a 6-year-old girl,has featured recurrent fever and ulcers of the oral mucosa,vulvar and perianal regions.No pathogenic variant was found by whole exome sequencing.However,analysis of chromosome copy number variation using the whole exome sequencing data has revealed mosaicism of trisomy 8.CNV-seq assay has verified the variant in the child,with the percentage of mosaicism being 73%.No abnormality was found in neither of her parents.Conclusion A case of mosaicism trisomy 8 with recurrent oral ulcer as the first symptom was diagnosed,which has enriched the phenotypic data of trisomy 8 syndrome.

关 键 词：8号三体 口腔溃疡 嵌合 全外显子组测序 拷贝数变异测序 

分 类 号：R725.9[医药卫生—儿科]