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2020-05-29
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#Phelan-McDermid綜合征#咨詢的共識(shí)建議: 特別注意復(fù)發(fā)風(fēng)險(xiǎn)和環(huán)22號(hào)染色體#SHANK3基因##神經(jīng)發(fā)育障礙##罕見病#
Phelan-McDermid綜合征(Phelan-McDermid syndrome，PMS)(MIM 6062322)是由22號(hào)染色體長臂末端缺失引起的較為罕見的#遺傳性疾病#，男女發(fā)病率無明顯差異。一項(xiàng)對(duì)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(huì)導(dǎo)致顯著的染色體疾病，但由于臨床上缺乏對(duì)該病的認(rèn)識(shí)及相關(guān)檢測(cè)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(jī)制目前仍不清楚。PMS臨床表現(xiàn)復(fù)雜多樣，主要包括#全面發(fā)育落后#、#智力障礙#、#肌張力降低#、#語言發(fā)育遲緩#、輕度畸形及#自閉癥#(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。
