Phelan-McDermid综合征1例临床表现并文献复习
摘要
该文对1例不明原因的全面发育迟缓患儿进行临床特征及基因诊断分析,为诊断Phelan-McDermid综合征(PMS)提供临床经验。通过收集1例PMS患儿资料,分析其临床表征、基因结果和随访资料等,并进行文献复习。患儿全面性发育迟缓,语言发育障碍,有孤独症样表现。基因检测提示Chr(22)(q13.32q13.33)片段缺失,片段大小2.19 Mb,包括SHANK3基因。PMS临床表现无特异性,可结合SHANK3基因检测结果明确诊断。
出处
《现代医药卫生》
2023年第16期2872-2876,共5页
Journal of Modern Medicine & Health
二级参考文献16
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