Objective To explore the clinical phenotype of 22q11.2 deletion syndrome with imperforate anus. Methods The clinical diagnosis and treatment of one case of 22q11.2 deletion 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 G2P2 mother were found to have special facial features, cleft palate, congenital heart disease, and imperforate anus after birth. A genome-wide microarray scan revealed 22q11.2 deletion syndrome. In related literatures, 22q11.2 deletion syndrome could be affected by TBX1 gene, histone modification, Ranbp1 gene, 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 and 22q11.2 deletion 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.%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microRNA均影响22q11.2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.
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