22q11.2微缺失综合征7例相关临床表型及病因分析

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。

Analysis of the clinical phenotype and pathogenesis in seven children with 22q11.2 deletion syndrome.

Objective　This retrospective study is designed to improve our understanding and diagnosis ability by analyzing the various clinical features and its pathogenesis in children with 22q11.2 deletion syndrome. Methods　Seven patients confirmed with 22q11.2 DS who were diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by molecular cytogenetic analysis were reviewed. We analyzed their clinical characteristics， diagnosis evidences and management. Results　There were 2 boys and 5 girls in this group； one of them was prenatal diagnosis， and others were confirmed at the mean age of two months. The clinical findings comprised of one hundred percent of heart malformation and anomaly face， immune deficiency present in 28.6%， hypocalcemia and cleft palate present in 14.3%. All cases were confirmed by FISH test， managed with usual manners depending on the individuals clinical features. Conclusion　Heart malformation and anomaly face are the prominent characteristics in this group of 22q11.2 DS. It is mainly caused by gene mutation and can be diagnosed early in life by individuals clinical features and FISH test. The cardiovascular defects involved with outflow tract problems and immunodeficiency secondary to the T-cell production abnormality are the key factors related to the anticipation.