摘要
目的探讨22q11.2缺失综合征合并肛门闭锁的临床表型。方法回顾分析1例22q11.2缺失综合征合并肛门闭锁患儿的临床诊治过程、基因和表型分析,并复习相关文献。结果患儿,男性,G2P2,双胎之大子,试管婴儿。生后发现特殊面容、腭裂、先天性心脏病、肛门闭锁等。行全基因组芯片扫描检测提示22q11.2缺失综合征。结合文献,TBX1基因、组蛋白修饰、Ranbp1基因甚至micro RNA均影响22 q 11.2缺失综合征;而肛门闭锁涉及遗传、母孕和环境多方面的影响,多个胚胎发育相关基因影响肛门闭锁的发生。结论先天性肛门闭锁和22q11.21缺失综合征在流行病学上多数为散发病例,是发育过程中的偶然事件,两者之间是否有共同的作用因子需进一步研究。
Objective To explore the clinical phenotype of22q11.2deletion syndrome with imperforate anus.Methods The clinical diagnosis and treatment of one case of22q11.2deletion syndrome complicated with anal atresia were retrospectively analyzed.Gene and phenotype of this disease were analyzed,and the related literature was reviewed.Results An elder male test tube infant of twins,born to a G2P2mother were found to have special facial features,cleft palate,congenital heart disease,and imperforate anus after birth.A genome-wide microarray scan revealed22q11.2deletion syndrome.In related literatures,22q11.2deletion syndrome could be affected by TBX1gene,histone modification,Ranbp1gene,and even microRNA;while imperforate anus were influenced by multiple elements such as genetic,maternal,and environmental factors and multiple embryonic developments related genes could be involved in its pathogenesis.Conclusions Congenital imperforate anus and22q11.2deletion syndrome are mostly sporadic cases in epidemiology and are incidental accidents in development.Whether there is a common interaction factor between them needs to be further studied and defined.
作者
张敏
朱晓东
王朋朋
谢伟
ZHANG Min;ZHU Xiaodong;WANG Pengpeng;XIE Wei(Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092, China)
出处
《临床儿科杂志》
CSCD
北大核心
2017年第9期669-672,共4页
Journal of Clinical Pediatrics
