title: Application of array-based comparative genomic hybridization to pediatric neurologic diseases.
abstract: OBJECTIVE
  Array comparative genomic hybridization (array-CGH) is a technique used to analyze quantitative increase or decrease of chromosomes by competitive DNA hybridization of patients and controls. This study aimed to evaluate the benefits and yield of array-CGH in comparison with conventional karyotyping in pediatric neurology patients.
  
  
  METHODS
  We included 87 patients from the pediatric neurology clinic with at least one of the following features: developmental delay, mental retardation, dysmorphic face, or epilepsy. DNA extracted from patients and controls was hybridized on the Roche NimbleGen 135K oligonucleotide array and compared with G-band karyotyping. The results were analyzed with findings reported in recent publications and internet databases.
  
  
  RESULTS
  Chromosome imbalances, including 9 cases detected also by G-band karyotyping, were found in 28 patients (32.2%), and at least 19 of them seemed to be causally related to the abnormal phenotypes. Regarding each clinical symptom, 26.2% of 42 developmental delay patients, 44.4% of 18 mental retardation patients, 42.9% of 28 dysmorphic face patients, and 34.6% of 26 epilepsy patients showed abnormal array results.
  
  
  CONCLUSIONS
  Although there were relatively small number of tests in patients with pediatric neurologic disease, this study demonstrated that array-CGH is a very useful tool for clinical diagnosis of unknown genome abnormalities performed in pediatric neurology clinics.
authors: Department of Pediatrics, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul 152-703, Korea. bleun@korea.ac.kr.
authors: Jung Hye
authors: JH
authors: Byeon
authors: Eunsim
authors: E
authors: Shin
authors: Gun-Ha
authors: GH
authors: Kim
authors: Kyungok
authors: K
authors: Lee
authors: Young Sook
authors: YS
authors: Hong
authors: Joo Won
authors: JW
authors: Lee
authors: Baik-Lin
authors: BL
authors: Eun
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D055815:Young Adult
keywords: Comparative genomic hybridization; child; nervous system disease