中国Phelan-McDermid综合征1例患儿的临床及分子遗传学分析  

Clinical diagnosis and mutation analysis of a Chinese boy with Phelan-McDermid syndrome

作　　者：付敏[1] 邹小兵[1] 章钧[2] 邓红珠[1] 李建英[1] 唐春[1] 

机构地区：[1]中山大学附属第三医院儿童发育行为中心,广州,510630 [2]中山大学附属第三医院生殖与遗传实验室,广州510630

出　　处：《中华实用儿科临床杂志》2013年第8期586-588,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家重点基础研究发展计划（973计划）（2012CB51-7901）

摘　　要：目的对1例不明原因的生长过快、发育迟缓患儿进行临床特征及基因诊断分析。方法描述患儿临床特点；实验室检查采用常规G显带分析染色体核型，进一步通过多重连接依赖探针扩增（MLPA）对微小缺失片段进行拷贝数变异（CNVs）检测，同时应用比较基因组杂交芯片技术（arrayCGH）检测全染色体微小改变，并采用荧光原位杂交技术（FISH）对新发现的缺失片段进行实验验证。结果1．患儿，男，1．5岁，宽额，尖下巴，生长过快，全面的发育迟缓，语言发育障碍、孤独症样表现。2．常规G带染色体核型示46，XY，MLPA结果显示患儿22q13段的SHANK3基因的9～23外显子及ACR、RABL2B基因的杂合性缺失，比较基因组杂交芯片分析证实22q13段杂合性缺失，并排除其他染色体的微改变，FISH进一步证实22q13段的缺失。结论根据临床表现，结合各项实验室检查结果可诊断患儿为Phelan-McDermid综合征；针对性的CNVs适宜采用MLPA技术，而arrayCGH更宜作为全染色体CNVs的筛查。Objective To explore the clinical features and genetic diagnosis analysis of a Chinese boy with unexplained overgrowth and developmental delay. Methods The clinical symptoms of the boy were described, and per- formed routine G-banding was performed to analyze the karyotype of the patient, and multiplex ligation-dependent probe amplification （MLPA） was used to detect the copy number variation （CNVs） in the 22q13 region, and array-comparative genomic hybridization（ array CGH） was used to detect all chromosome abnormally,then fluorescence in situ hybridiza- tion（FISH） confirmed the result. Results 1. The boy was 1.5 years old and complained about accelerated growth, global developmental delay, severely delayed speech ability and peculiar facial features. 2. Routine karyotype analysis showed a karyotype of 46,XY. MLPA found terminal deletion with breakpoints within the SHANK3 gene and ACR gene, RABL2B gene,and array CGH finely mapped the deletion on 22q13 ,furthermore FISH confirmed the micro deletion. Con- clusions Combining the clinical manifestations and effective examination of 22q13 deletion,the boy got a reliable diag- nosis of Phelan-McDermid syndrome;as array CGH can be useful to screen CNVs of all chromosome,so MLPA should be applied to some special CNVs.

关 键 词：Phelan-McDermid综合征 生长过快 发育落后 多重连接依赖探针扩增 比较基因组杂交芯片 技术 

分 类 号：R72[医药卫生—儿科]