title: Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype.
abstract: OBJECTIVE
  To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype.
  
  
  METHODS
  Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients.
  
  
  RESULTS
  Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants.
  
  
  CONCLUSIONS
  The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.
authors.affiliation: Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Pratte-Santos
authors.affiliation: Faculdade de Ciências Biomédicas do Espírito Santo, Cariacica, ES, Brazil.
authors.forename: Katyanne Heringer
authors.initials: KH
authors.lastname: Ribeiro
authors.affiliation: Faculdade de Ciências Biomédicas do Espírito Santo, Cariacica, ES, Brazil.
authors.forename: Thainá Altoe
authors.initials: TA
authors.lastname: Santos
authors.affiliation: Laboratório de Genética do Espírito Santo, Vitória, ES, Brazil.
authors.forename: Terezinha Sarquis
authors.initials: TS
authors.lastname: Cintra
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000145:classification*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D059785:Karyotype; D008297:Male; D012189:Retrospective Studies; D055815:Young Adult