Complex autism spectrum disorder in a patient with a 17q12 microduplication†
Article first published online: 4 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 5, pages 1170–1177, May 2012
How to Cite
Brandt, T., Desai, K., Grodberg, D., Mehta, L., Cohen, N., Tryfon, A., Kolevzon, A., Soorya, L., Buxbaum, J. D. and Edelmann, L. (2012), Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am. J. Med. Genet., 158A: 1170–1177. doi: 10.1002/ajmg.a.35267
How to Cite this Article: Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. 2012. Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am J Med Genet Part A. 158A:1170–1177.
- Issue published online: 18 APR 2012
- Article first published online: 4 APR 2012
- Manuscript Accepted: 26 DEC 2011
- Manuscript Received: 22 JUL 2011
- The Charles R. Bronfman Institute
- Seaver Foundation
- 17q12 microduplication;
- array CGH;
- recurrent rearrangement;
Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30–70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16–20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype. © 2012 Wiley Periodicals, Inc.