All the authors declare no conflict of interest.
Chromosomal Abnormalities in Patients With Autism Spectrum Disorders From Taiwan
Article first published online: 17 OCT 2013
© 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Special Issue: Identifying the Origins of Mental Illness: A Festschrift in Honor of Ming T. Tsuang
Volume 162, Issue 7, pages 734–741, October 2013
How to Cite
2013. Chromosomal Abnormalities in Patients With Autism Spectrum Disorders From Taiwan. Am J Med Genet Part B 162B:734–741., , , , , , , , , .
Hsiao-Mei Liao and Susan Shur-Fen Gau contribute equally as the first authors.
- Issue published online: 17 OCT 2013
- Article first published online: 17 OCT 2013
- Manuscript Accepted: 5 MAR 2013
- Manuscript Received: 27 DEC 2012
- National Science Council. Grant Numbers: NSC96-3112-B-002-033, NSC97-3112-B-002-009, NSC98-3112-B-002-004, NSC 99-3112-B-002-036
- National Taiwan University (AIM for Top University Excellent Research Project). Grant Numbers: 10R81918-03, 101R892103, 102R892103
- National Health Research Institutes, Taiwan
Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA. © 2013 Wiley Periodicals, Inc.