title: Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH.
abstract: OBJECTIVE
  To detect the characteristic chromosomal changes in Chinese children with infantile autism.
  
  
  METHODS
  Chromosome aberrations in 68 cases of infantile autism were analyzed by high-resolution G-banding and fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones.
  
  
  RESULTS
  Chromosomal changes were detected in 4 cases by high-resolution G-banding: one case with t(4;6)(q23-24;p21), one case with longer p arm of chromosome 21 (21p+), and two cases with pericentric inversion of chromosome 9 (inv(9)) which was confirmed by C-banding. BAC FISH analysis was performed to confirm these observations and changes in chromosomes 2, 7 and 15, which are often found in autistic children. There could exist the translocation of t(4;6) (q25-26;p21.1). Chromosome changes often reported previously in chromosomes 2, 7 and 15 were not detected in this study. Inv(9) and 21p+ were not confirmed with present BAC clones.
  
  
  CONCLUSIONS
  Chromosomal changes were detected in four cases of infantile autism, with a detectability of 5.9% , far lower than that (10% to 48%) reported in literature. The breakpoint of translocation could be detected more accurately using BAC FISH method.
authors.affiliation: Chinese National Human Genome Center, Beijing, 100176, PR China.
authors.forename: Qing-jie
authors.initials: QJ
authors.lastname: Liu
authors.forename: Fen
authors.initials: F
authors.lastname: Ma
authors.forename: Dan
authors.initials: D
authors.lastname: Li
authors.forename: Xiao-wei
authors.initials: XW
authors.lastname: Wang
authors.forename: Wen-yan
authors.initials: WY
authors.lastname: Tian
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.forename: Jiang-bin
authors.initials: JB
authors.lastname: Feng
authors.forename: Xue
authors.initials: X
authors.lastname: Lu
authors.forename: De-qing
authors.initials: DQ
authors.lastname: Chen
authors.forename: Xiao-Ning
authors.initials: XN
authors.lastname: Chen
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
mesh_terms: D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity