摘要
目的探讨Angelman综合征(Angelman syndrome,AS)的临床特点和诊断方法。方法回顾性分析1例AS患儿的临床表现、辅助检查及遗传检测特点,并复习相关文献。结果女性患儿,1岁,精神运动发育迟滞,反复惊厥发作,脑电图异常。染色体核型46,XX,del(15)(q11.2q12),15号染色体长臂部分片段缺失。结论以发育落后、癫癎为表现的婴幼儿,需考虑到遗传性疾病,染色体及基因检测有助诊断。
Objective To investigate the clinical features and diagnosis of Angelman syndrome( AS). Methods The clinical manifestations,laboratory tests,and genetic tests of one case of AS were retrospectively analyzed. The related literature was reviewed. Results An 1-year-old female patient with motor and mental retardation had seizures frequently. The EEG was abnormal. The chromosom karyotype was 46,XX,del(15)( q11. 2q12),which had a deletion of chromosome 15. Conclusion In infants and young children with motor and mental retardation and epilepsy,genetic diseases should be considered. The test of chromosom and gene may help diagnosis.
出处
《教育生物学杂志》
2017年第2期101-104,共4页
Journal of Bio-education
