PMID- 15952108 OWN - NLM STAT- MEDLINE DCOM- 20090319 LR - 20050613 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 22 IP - 3 DP - 2005 Jun TI - Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH. PG - 254-7 AB - 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. CONCLUSION: 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. FAU - Liu, Qing-jie AU - Liu QJ AD - Chinese National Human Genome Center, Beijing, 100176, PR China. FAU - Ma, Fen AU - Ma F FAU - Li, Dan AU - Li D FAU - Wang, Xiao-wei AU - Wang XW FAU - Tian, Wen-yan AU - Tian WY FAU - Chen, Yan AU - Chen Y FAU - Feng, Jiang-bin AU - Feng JB FAU - Lu, Xue AU - Lu X FAU - Chen, De-qing AU - Chen DQ FAU - Chen, Xiao-Ning AU - Chen XN FAU - Shen, Yan AU - Shen Y LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 SB - IM MH - Autistic Disorder/diagnosis/*genetics MH - Child MH - *Chromosome Aberrations MH - Chromosome Banding MH - Chromosomes, Artificial, Bacterial/genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Male MH - Reproducibility of Results MH - Sensitivity and Specificity EDAT- 2005/06/14 09:00 MHDA- 2009/03/20 09:00 CRDT- 2005/06/14 09:00 PHST- 2005/06/14 09:00 [pubmed] PHST- 2009/03/20 09:00 [medline] PHST- 2005/06/14 09:00 [entrez] AID - 940622061 [pii] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Jun;22(3):254-7.