22q11.2微缺失综合征20例临床表型分析  

Analysis of the clinical phenotype in 20 children with 22q11.2 deletion syndrome

作　　者：孙碧君[1] 吴冰冰[2] 郭晓红[3] 刘仁超[3] 杨琳[3] 周文浩[1] 

机构地区：[1]复旦大学附属儿科医院新生儿科,上海201102 [2]卫生部新生儿疾病重点实验室 [3]复旦大学儿科研究所临床流行病学研究室

出　　处：《中华实用儿科临床杂志》2015年第8期589-592,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：上海市科委重大课题（11DZ1950302）;上海市卫计委重要疾病联合攻关项目（沪卫计科教2013-018）

摘　　要：目的 总结22q11.2微缺失综合征（22q11.2DS）患儿的临床特征,以提高对该病的认识.方法 分析2008年8月至2014年4月在复旦大学附属儿科医院经荧光原位杂交技术（FISH）或多重连接探针扩增技术（MLPA）确诊为22q1 1.2DS的20例患儿的资料,总结其临床特征.结果 20例患儿中男13例,女7例;确诊中位数年龄为3.9个月.先天性心脏病共17例（85％）,9例患儿行手术治疗;最常见的复杂先天性心脏病类型为法洛四联症和肺动脉闭锁,均为20％（4/20例）.免疫功能异常10例（50％）,其中9例患儿为T淋巴细胞总数明显减少,1例仅为CD8细胞数量减少,体液免疫功能均正常.6例细胞免疫异常患儿经胸腺肽治疗,其中4例患儿经随访免疫功能提示明显好转.低钙血症为6例（30％）,3例出现低钙抽搐、甲状旁腺素减低;面容异常3例（15％）,2例仅表现为小下颌;腭咽喉部畸形4例（20％）,3例喉部异常,1例腭裂;精神运动发育迟缓患儿9例（45％）.结论 对于先天性心脏病并低钙血症和/或免疫功能异常的患儿应考虑存在22q1 1.2DS的可能,最终需结合分子诊断进一步确诊.Objective To investigate the clinical manifestations in patients with 22q11.2 deletion syndrome （22q11.2DS） to improve the understanding of the disease.Methods Twenty patients with 22q11.2 DS were enrolled from Children＇s Hospital of Fudan University between August 2008 and April 2014.Cytogenetic and molecular genetic methods included fluorescence in situ hybridization （10 cases）,and multiplex ligation-dependent probe amplification （10 cases）.Age at the time of the diagnosis,sex and clinical manifestations were analyzed.Results The subject group consisted of 20 patients.Among them,13 cases （65%） were male and 7 cases （35%） were female.The median diagnostic age was 3.9 months.The presence of congenital heart diseases was identified in 17 patients （85%） and surgical correction was performed in 9 cases of them.The most frequent of complex congenital heart diseases were tetralogy of Fallot （20%） and pulmonary atresia （20%）.Ten patients had varying degrees of T-cell immune function defects.Decrease in total lymphocytes and only CD8 counts were present in 45% and 5%,respectively.Hypogammaglobulinemia was not detected in any patient.Six eases with T-cell immune function defects were treated with thymosin,4 of which were followed up for months,and the prognosis was good.Hypocalcemia was detected in 6 patients （30%）,3 of whom presented with hypocalcemic seizures and hypoparathyroidism.Craniofacial dysmorphisms were detected in 3 patients（15%）,2 of them only presented with micrognathia.Otorhinolaryngologic abnormalities were found in 4 cases （20%）,3 of whom had laryngeal abnormalities,one of whom had cleft palate.Psychomotor developmental delay was found in 9 cases.Conclusions Congenital heart defects,hypocalcemia and/or impaired immune function are diagnostic features for 22q1 1.2 deletion syndrome,and they should be considered for cytogenetic analysis.

关 键 词：22q11.2微缺失综合征 表型 分子细胞遗传学 先天性心脏病 

分 类 号：R725.9[医药卫生—儿科]