title: [Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].
abstract: OBJECTIVE
  To investigate the association between genotype and phenotype of microdeletion and microduplication syndromes (MMSs) and the pathogenesis of pathogenic copy number variations (CNVs).
  
  
  METHODS
  A total of 50 children with MMSs diagnosed by chromosomal microarray analysis (CMA) from June 2013 to September 2015 were enrolled, and the clinical manifestations and features of pathogenic CNVs were analyzed.
  
  
  RESULTS
  The main clinical manifestations of children with MMSs included mental retardation, developmental delay, short stature, and unusual facies, with the presence of abnormalities in multiple systems. There were 54 pathogenic CNVs in total, consisting of 36 microdeletion segments and 18 microduplication segments, with sizes ranging from 28 kb to 48.5 Mb (mean 13.86 Mb). Pathogenic CNVs often occurred in chromosomes X, 15, and 1.
  
  
  CONCLUSIONS
  The clinical manifestations of MMSs are not specific, and a genotype-first approach can be used for diagnosis. Mode of inheritance, type of recombination (deletion or duplication), size of segment, and functional genes included helps with the interpretation of CNVs of de novo mutations, and in-depth research on rare pathogenesis may become breakthrough points for the identification of new MMSs.
authors.affiliation: Department of Pediatric Endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510260, China. doctorlly@126.com.
authors.forename: Li-Na
authors.initials: LN
authors.lastname: Zhang
authors.forename: Zhe
authors.initials: Z
authors.lastname: Meng
authors.forename: Zhan-Wen
authors.initials: ZW
authors.lastname: He
authors.forename: Dong-Fang
authors.initials: DF
authors.lastname: Li
authors.forename: Xiang-Yang
authors.initials: XY
authors.lastname: Luo
authors.forename: Li-Yang
authors.initials: LY
authors.lastname: Liang
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies; D013577:Syndrome