快乐木偶综合征,为常染色体隐性遗传性疾病。临床表现主要是发育迟缓、颅面部异常、共济失调、阵发性发笑、癫痫发作等。本病的遗传机制主要是15号染色体长臂11区到13区缺失(15q11-13 deletion)。国外研究表明,Angelman综合征具有较为特征性的临床及脑电图改变,其中EEG为诊断Angelman综合征的一项敏感方法,常能在临床症状明显前及基因诊断前提示本病,从而有助于早期 Happy puppet syndrome, autosomal recessive genetic disease. Clinical manifestations are mainly stunted growth, abnormal craniofacial, ataxia, paroxysmal amusement, seizures and so on. The genetic mechanism of this disease is mainly the long arm of chromosome 15 11 to 13 district deletion (15q11-13 deletion). Foreign studies have shown that Angelman syndrome has a more characteristic clinical and electroencephalographic changes, of which EEG is a sensitive method for the diagnosis of Angelman syndrome, often before the clinical symptoms and genetic diagnosis prompted the disease, which helps In the early days