Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH.
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.
Liu
Qing-jie
QJ
Chinese National Human Genome Center, Beijing, 100176, PR China.
Ma
Fen
F
Li
Dan
D
Wang
Xiao-wei
XW
Tian
Wen-yan
WY
Chen
Yan
Y
Feng
Jiang-bin
JB
Lu
Xue
X
Chen
De-qing
DQ
Chen
Xiao-Ning
XN
Shen
Yan
Y
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