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目的探讨22q11.2微缺失综合征患儿的不同临床表现。方法收集2006年7月至2007年6月在英国Oxford儿童医院临床所见的7例经分子细胞遗传学分析(FISH检测)确诊为22q11.2微缺失综合征患儿的临床资料,分析其临床表现、诊断及治疗情况。结果7例中男2例,女5例。7例均通过FISH检测确诊,1例为产前诊断,余6例的平均确诊年龄为2个月。2例(28.4%)为父母遗传致病,5例(71.6%)为基因突变致病。其中,先天性心脏病和面容异常的发生率均为100%,免疫功能异常28.6%,颚裂14.3%,低钙14.3%。根据患儿的不同临床表现进行对症治疗。结论22q11.2微缺失综合征患儿以心脏畸形及面容异常为突出表现,结合FISH检测可早期诊断,基因突变是其主要病因,以流出道受损为主的心脏畸形及以T淋巴细胞数量减少为主的免疫功能异常是影响预后的关键因素。
Objective To investigate the different clinical manifestations of children with 22q11.2 microdeletion syndrome. Methods The clinical data of 7 children diagnosed with 22q11.2 microdeletion syndrome diagnosed by molecular cytogenetic analysis (FISH test) from July 2006 to June 2007 in Oxford Children’s Hospital of England were collected. The clinical data Performance, diagnosis and treatment. Results There were 2 males and 5 females in 7 cases. 7 cases were diagnosed by FISH, 1 case of prenatal diagnosis, the remaining 6 cases were diagnosed at an average age of 2 months. Two cases (28.4%) were genetically genetic parents, and five cases (71.6%) were pathogenic mutations. Among them, the incidence of congenital heart disease and facial abnormalities were 100%, 28.6% of immune dysfunction, cleft palate 14.3%, 14.3% of low calcium. According to different clinical manifestations of children symptomatic treatment. Conclusion 22q11.2 microdeletion syndrome in children with abnormal heart and face abnormalities as the outstanding performance, combined with FISH detection can be diagnosed early, the gene mutation is the main cause of outflow tract lesions in the main deformity and the number of T lymphocytes Decreased immune dysfunction is a key factor affecting the prognosis.