How to Cite this Article: Griesi-Oliveira K, Moreira DdP, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. 2012. A Complex Chromosomal Rearrangement Involving Chromosomes 2, 5, and X in Autism Spectrum Disorder. Am J Med Genet Part B 159B:529–536.
A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder†
Article first published online: 16 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 159B, Issue 5, pages 529–536, July 2012
How to Cite
Griesi-Oliveira, K., Moreira, D. d. P., Davis-Wright, N., Sanders, S., Mason, C., Orabona, G. M., Vadasz, E., Bertola, D. R., State, M. W. and Passos-Bueno, M. R. (2012), A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. Am. J. Med. Genet., 159B: 529–536. doi: 10.1002/ajmg.b.32059
- Issue published online: 5 JUN 2012
- Article first published online: 16 MAY 2012
- Manuscript Accepted: 18 APR 2012
- Manuscript Received: 29 MAY 2011
- balanced translocation;
- uniparental disomy chromosome 5;
- duplication 5q11;
Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. © 2012 Wiley Periodicals, Inc.