【摘要】 目的了解染色体芯片在儿童发育异常中的应用情况。方法对我院2015年3月～2018年10月62例存在不明原因的智力障碍、特殊面容的发育异常、身高低于均值3个标准差以上的特发性矮小或小于胎龄儿且出生后生长迟缓持续加重,或合并多个(2个或以上)系统的发育异常儿童应用染色体芯片进行检测以明确病因。结果62例发育异常儿童中染色体芯片检测发现异常结果有45例(占72.58%),发现拷贝数变异39例(占62.90%),另外发现明确致病的单亲二倍体2例(占3.22%)。其中明确致病性突变的29例(46.77%),发现意义不明的拷贝数变异10例(占16.13%)。结论染色体芯片检测有利于儿童发育异常相关罕见病的诊治。更多还原

【Abstract】 Objective To understand the application of chromosome microarray in children with dysplasia. Methods From March 2015 to October 2018, 62 idiopathic short stature or small for gestational age infants with growth retardation continuing after birth with unexplained mental retardation, abnormal development of special face, and height with 3 standard deviations lower, or children with dysplasia who have multiple(two or more) systems were tested using chromosome microarrays to find out the possible reasons. Results Among 62 children with dysplasia, 45 cases(72.58%)were found to be abnormal in chromosome microarrays, 39 cases(62.90%) to variation of copy number, and 2 cases(3.22%) were identified as pathogenic diploids. Among them, 29 cases(46.77%) with pathogenic mutations were identified, and 10 cases(16.13%) with unknown variation of copy number were detected. Conclusion Chromosome microarray detection is beneficial for the diagnosis and treatment of rare diseases related to children with dysplasia.更多还原