[1] 杨璞,桂宝恒,邬玲仟. 智力障碍的病因及诊断方法[J]. 中国当代儿科杂志,2015,17(6):543-548. [2] 吴晔,姜玉武,王小竹,等. 不明原因智力障碍/脑发育迟缓患儿染色体亚端粒重组突变的检测[J]. 中华儿科杂志,2007, 45(12):906-911. [3] SCHAAF C P,WISZNIEWSKA J,BEAUDET A L. Copy number and SNP arrays in clinical diagnostics[J]. Annu Rev Genomics Hum Genet,2011,12:25-51. [4] MILLER D T,ADAM M P,ARADHYA S,et al. Consensus statement:chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies[J]. Am J Hum Genet,2010,86(5):749-764. [5] PERGOLIZZI R G,ERSTER S H,GOONEWARDENA P,et al. Detection of full fragile X mutation[J]. Lancet,1992,339(8788):271-272. [6] ZHANG X,BAO X,ZHANG J,et al. Molecular characteristics of Chinese patients with Rett syndrome[J]. Eur J Med Genet,2012,55(12):677-681. [7] 李一帆,邱文娟,叶军,等. 66例精神发育迟滞/发育迟缓患儿基因组拷贝数变异的染色体芯片分析[J]. 中华医学遗传学杂志,2014,31(6):703-707. [8] MOESCHLER J B,SHEVELL M. Comprehensive evaluation of the child with intellectual disability or global developmental delays[J]. Pediatrics,2014,134(3):e903-e918. [9] COUTTON C,DIETERICH K,SATRE V,et al. Array-CGH in children with mild intellectual disability:a population-based study[J]. Eur J Pediatr,2015,174(1):75-83. [10]BRADY P D,VERMEESCH J R.Genomic microarray:a technology overview[J]. Prenat Diagn, 2012, 32(4): 336-343. [11]陈燕惠. 发育早期易被忽视的儿童发育障碍相关疾病[J].中国儿童保健杂志,2017,25(10):978-980.