染色体6p25缺失综合征1例报告并文献复习  

Chromosome 6p25 deletion syndrome:a case report and literature review

作　　者：潘翔 逯军[1] 厉广栩 陈振 PAN Xiang;LU Jun;LI Guangxu;CHEN Zhen(Department of Pediatrics,The Affiliated Haikou Hospital of Xiangya Medical College,Central South University,Haikou 570208,Hainan,China)

机构地区：[1]中南大学湘雅医学院附属海口医院儿科,海南海口570208

出　　处：《临床儿科杂志》2020年第6期463-466,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨染色体6p25缺失综合征的临床特征。方法回顾分析1例染色体6p25缺失综合征患儿的临床资料,并复习相关文献。结果患儿,男,2岁9个月,临床表现为语言发育迟缓,反复呼吸道感染,特殊面容,牙齿发育不全。眼科显微镜检查提示Axenfeld-Rieger综合征的眼前节改变。头颅磁共振成像示右侧颞极蛛网膜囊肿,胼胝体发育不良,第三、四脑室扩张。听力测试无异常;脑干听觉诱发电位示双侧波形分化不良。基因检测发现患儿6号染色体p25.3~p25.2区域(chr 6:393140-3226909)存在2.833 Mb的杂合缺失,确诊为染色体6p25缺失综合征。检索中文数据库未见儿童染色体6p25缺失综合征的报道。结论染色体6p25缺失综合征的临床表现多样,主要致病基因为FOXC1、SERPINB6、TUBB2A、TUBB2B等。Objective To explore the clinical characteristics of chromosome 6p25 deficiency syndrome.Method The clinical data of chromosome 6p25 deficiency syndrome in 1 child were retrospectively analyzed and the relevant literature was reviewed.Results The boy,aged 2 years and 9 months old,presented with language retardation,recurrent respiratory infections,special facial features and hypoplasia of teeth.Ophthalmoscopy revealed changes of Axenfeld-Rieger syndrome in the anterior segment.Cranial MR suggested right temporal pole arachnoid cyst,dysplasia of corpus callosum,and third and fourth ventricle dilatation.The hearing test was normal,and the brainstem auditory evoked potential indicated poor bilateral waveform differentiation.Genetic testing revealed a heterozygosis deletion of 2.833Mb in the region p25.3-p25.2 of chromosome 6(chr6:393140-3226909)in the child,so he was diagnosed with chromosome 6p25 deletion syndrome.No case report of chromosome 6p25 deletion syndrome in children was found in the Chinese database.Conclusion The clinical manifestations of chromosome 6p25 deletion syndrome are diverse,and the main pathogenic genes are FOXC1,SERPINB6,TUBB2A,TUBB2B,and so on.

关 键 词：染色体6p25缺失综合征 AXENFELD-RIEGER综合征 发育异常 

分 类 号：R725.9[医药卫生—儿科]