你是否见过这样的孩子?他们拥有天真烂漫的笑容,纯洁如天使,被唤作“微笑天使”。 然而,笑容背后却往往伴随错乱言语和僵硬颤抖的步伐,如同被操控的“快乐木偶”,空洞微笑摇摆。这并非真快乐,而是一种罕见病——天使综合征(Angelman Syndrome, AS)的残酷伪装。
Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother.