Conflict of interest: none.
Myoclonic epilepsy in a child with 17q22–q23.1 deletion
Article first published online: 21 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2036–2039, August 2013
How to Cite
2013. Myoclonic epilepsy in a child with 17q22–q23.1 deletion. Am J Med Genet Part A. 161A:2036–2039., , , , , .
- Issue published online: 24 JUL 2013
- Article first published online: 21 JUN 2013
- Manuscript Accepted: 3 APR 2013
- Manuscript Received: 26 NOV 2012
- The Henry Smith Charity
- Action Medical Research
- 17q22–q23.3 deletion;
- myoclonic epilepsy
Interstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22–q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical phenotype of epilepsy characterized by myoclonic atonic and absence seizures in a 6-year-old boy carrying a de novo 17q22q23 deletion detected by oligonucleotide array comparative genomic hybridization (aCGH). © 2013 Wiley Periodicals, Inc.