染色体荧光原位杂交检测确诊Angelman综合征一例
被引量：1
摘要
患儿,男,2岁5个月,因精神运动发育落后1年余,抽搐1 d于2010年3月人院.患儿4个月能抬头,18个月可扶站,目前仍独立不稳.可发音,但不会叫＂爸、妈＂,常无缘由哈哈大笑.入院前1 d出现抽搐,发作形式为肌阵挛,10～15次/d.否认家族史.查体：精神发育迟缓,刻板动作.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2011年第12期863-864,共2页
National Medical Journal of China
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