title: Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.
abstract: BACKGROUND
  Chromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples.
  
  
  METHODS
  Among 971 patient samples, 133 (13.6%) had pathogenic variants.
  
  
  RESULTS
  While analyzing, an "in-house" variant database was also used besides other databases. Owing to this, we have found chance to report the most frequent benign variants in Turkish population.
  
  
  CONCLUSIONS
  With the additional data we acquired in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations.
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: B
authors.identifier: http://orcid.org/0000-0003-2654-3698
authors.initials: B
authors.lastname: Ozyilmaz
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: Kirbiyik
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Koc
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: T R
authors.initials: TR
authors.lastname: Ozdemir
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: O O
authors.initials: OO
authors.lastname: Kaya
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: M S
authors.initials: MS
authors.lastname: Guvenc
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: K M
authors.initials: KM
authors.lastname: Erdoğan
authors.affiliation: Department of Medical Genetics, Izmir Tepecik Education and Research Hospital, Turkey.
authors.forename: Y B
authors.initials: YB
authors.lastname: Kutbay
mesh_terms: D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology; D056915:DNA Copy Number Variations / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D046228:Microarray Analysis; D014421:Turkey
keywords: 
  CNV
  ; 
  VOUS
  ; 
  ZNF107
  ; Turkish; microarray; microdeletion; microduplication; optima; pathogenic