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[GetTopicListResponse(id=2129641, encodeId=cc0e2129641da, content=<a href='/topic/show?id=bbb8106088cf' target=_blank style='color:#2F92EE;'>#Phelan-McDermid綜合征#</a>咨詢的共識建議: 特別注意復發(fā)風險和環(huán)22號染色體<a href='/topic/show?id=855910608965' target=_blank style='color:#2F92EE;'>#SHANK3基因#</a><a href='/topic/show?id=5ecce424448' target=_blank style='color:#2F92EE;'>#神經(jīng)發(fā)育障礙#</a><a href='/topic/show?id=5a8be955621' target=_blank style='color:#2F92EE;'>#罕見病#</a>
Phelan-McDermid綜合征(Phelan-McDermid syndrome，PMS)(MIM 6062322)是由22號染色體長臂末端缺失引起的較為罕見的<a href='/topic/show?id=fd309513314' target=_blank style='color:#2F92EE;'>#遺傳性疾病#</a>，男女發(fā)病率無明顯差異。一項對11000多例發(fā)育障礙患者亞端粒重排的研究，發(fā)現(xiàn)22q13是僅次于1p36的第二常見亞端粒重排區(qū)，會導致顯著的染色體疾病，但由于臨床上缺乏對該病的認識及相關檢測技術(shù)的限制，其具體的患病率仍難以確定。有研究指出，80%~85%的PMS是"新發(fā)事件"。在新發(fā)患者中，發(fā)生缺失的染色體70%為父源性，該病的具體發(fā)病機制目前仍不清楚。PMS臨床表現(xiàn)復雜多樣，主要包括<a href='/topic/show?id=2c8510609267' target=_blank style='color:#2F92EE;'>#全面發(fā)育落后#</a>、<a href='/topic/show?id=7e2a6003078' target=_blank style='color:#2F92EE;'>#智力障礙#</a>、<a href='/topic/show?id=6d1710609368' target=_blank style='color:#2F92EE;'>#肌張力降低#</a>、<a href='/topic/show?id=7704918133a' target=_blank style='color:#2F92EE;'>#語言發(fā)育遲緩#</a>、輕度畸形及<a href='/topic/show?id=4266863e7bd' target=_blank style='color:#2F92EE;'>#自閉癥#</a>(autism spectrum disorde，ASD)等，由于其缺乏特異性的臨床表現(xiàn)，經(jīng)常被誤診。, objectTitle=Phelan-McDermid綜合征咨詢的共識建議: 特別注意復發(fā)風險和環(huán)22號染色體, objectType=guider, longId=23846, objectId=69b331c003120e25, topicUrl=null, isHasObj=0, objectCover=null, objectUrl=/guideline/show_article.do?id=69b331c003120e25, replyNumber=0, likeNumber=229, createdTime=2023-05-02, rootId=0, userName=俠膽醫(yī)心, userId=f63e4754896, projectId=1, avatar=, status=1, hasArticle=1, attachment=[AttachmentDto(url=https://img.medsci.cn/comment/20230502/5fb6f3e6d38c4f8c9a439762d10d0d44.webp, type=image, width=0, height=0)], ipAttribution=上海, moduleDTOList=[ModuleDTO(moduleId=69b331c003120e25, moduleTitle=Phelan-McDermid綜合征咨詢的共識建議: 特別注意復發(fā)風險和環(huán)22號染色體, moduleType=guider, hrefUrl=http://ermita.cn/guideline/show_article.do?id=69b331c003120e25)], followStatus=false, userIsMember=false, type=1, lengthMark=1)]
俠膽醫(yī)心
2023-05-02發(fā)表于上海
