Dissemination of information: This case has been entered on Decipher database under the reference number SMH250275.
Article first published online: 13 MAY 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 6, pages 1453–1457, June 2011
How to Cite
Banka, S., Fitzgibbon, G. J., Gaunt, L., Rankin, W. J. and Clayton-Smith, J. (2011), A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion. Am. J. Med. Genet., 155: 1453–1457. doi: 10.1002/ajmg.a.34034
How to Cite this Article: Banka S, Fitzgibbon GJ, Gaunt L, Rankin WJ, Clayton-Smith J. 2011. A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion. Am J Med Genet Part A 155:1453–1457.
- Issue published online: 20 MAY 2011
- Article first published online: 13 MAY 2011
- Manuscript Accepted: 20 MAR 2011
- Manuscript Received: 4 JAN 2011
- Manchester NIHR Biomedical Research Centre
- 16q22 duplication;
- 15q13 deletion;
- second-hit hypothesis;
- learning difficulties;
- tapering fingers;
- short toes;
The phenotype of 15q13.3 microdeletion is variable and can be non-penetrant. Recently, “second-hit hypothesis” has been proposed as a possible explanation for some variability in recurrent microdeletion syndromes. We present a family with a 1.9 Mb 15q13.3 deletion and a novel 800 kb 16q22.1duplication. We show that the 16q22.1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function. © 2011 Wiley-Liss, Inc.