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Prader-Willi综合征1例报道

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摘要 Prader-Willi综合征为染色体微小缺失、15q11-13缺失,可表现为严重肌张力低下、喂养困难、过食、逐渐发生病态的肥胖、性发育不良、认知和行为障碍,半数患儿可无特殊面容。本病大部分为新生突变,发病率低,临床表现不典型,容易漏诊,需要行染色体检查或分子遗传学检查确定诊断。
作者 扈雯雯
机构地区 威海市中心医院
出处 《基层医学论坛》 2017年第13期1681-1681,共1页 The Medical Forum
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