title: Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.
abstract: OBJECTIVE
  This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution.
  
  
  METHODS
  We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012.
  
  
  RESULTS
  A total of 190 patients were identified. Mean age was 5.1±1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings.
  
  
  CONCLUSIONS
  Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
authors.affiliation: Department of Medical Genetics, Ajou University School of Medicine, 164 World cup-ro, Yeongtong-gu, Suwon 443-380, Korea. ybsohn@ajou.ac.kr.
authors.forename: Cha Gon
authors.initials: CG
authors.lastname: Lee
authors.forename: Sang-Jin
authors.initials: SJ
authors.lastname: Park
authors.forename: Jun-No
authors.initials: JN
authors.lastname: Yun
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: Hyon-Ju
authors.initials: HJ
authors.lastname: Kim
authors.forename: Shin-Young
authors.initials: SY
authors.lastname: Yim
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D059785:Karyotype; D008297:Male; D056910:Republic of Korea; D012189:Retrospective Studies; D063128:Tertiary Health Care / Q000706:statistics & numerical data; D055815:Young Adult
keywords: Array CGH; copy number variations; developmental delay; intellectual disability