Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH.
- Author:
Qing-jie LIU
1
;
Fen MA
;
Dan LI
;
Xiao-wei WANG
;
Wen-yan TIAN
;
Yan CHEN
;
Jiang-bin FENG
;
Xue LU
;
De-qing CHEN
;
Xiao-Ning CHEN
;
Yan SHEN
Author Information
- Publication Type:Journal Article
- MeSH: Autistic Disorder; diagnosis; genetics; Child; Chromosome Aberrations; Chromosome Banding; Chromosomes, Artificial, Bacterial; genetics; Female; Humans; In Situ Hybridization, Fluorescence; methods; Male; Reproducibility of Results; Sensitivity and Specificity
- From: Chinese Journal of Medical Genetics 2005;22(3):254-257
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo detect the characteristic chromosomal changes in Chinese children with infantile autism.
METHODSChromosome 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.
RESULTSChromosomal 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.
CONCLUSIONChromosomal 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.
