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| Clinical manifestations and EEG patterns of Angelman syndrome |
| CAI Zhen1,2, HE Dake1, ZHANG Jianming1, GE Xin1, SONG Xiaoqing1, WU Jing1, YAN Yumei1, HOU Ruolin1 |
| 1.Department of Pediatric Neurology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China;2.Department of Child Care, Maternity and Child Care Hospital of Jingan District, Shanghai 200042, China |
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Abstract 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.
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