How to Cite this Article: Tirado CA, Henderson S, Uddin N, Stewart E, Iyer S, Ratner IM, Matthews E, Doolittle J, Garcia R, Valdez F, Dallaire S, Appleberry T, Payne D, Collins R. 2009. “Cytogenetic and Molecular Characterization of a Partial Trisomy 2p Arising from Inverted Duplication of 2p with Terminal Deletion of 2pter”. Am J Med Genet Part A 149A:2507–2512.
Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter†
Version of Record online: 28 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2507–2512, November 2009
How to Cite
Tirado, C. A., Henderson, S., Uddin, N., Stewart, E., Iyer, S., Ratner, I. M., Matthews, E., Doolittle, J., Garcia, R., Valdez, F., Dallaire, S., Appleberry, T., Payne, D. and Collins, R. (2009), Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter. Am. J. Med. Genet., 149A: 2507–2512. doi: 10.1002/ajmg.a.33080
- Issue online: 28 OCT 2009
- Version of Record online: 28 OCT 2009
- Manuscript Accepted: 2 AUG 2009
- Manuscript Received: 18 MAY 2009
Editor's Note This report by Tirado and colleagues and the ensuing paper by Vera-Carbonell et al. describe two separate individuals with a distal chromosome deletion accompanied by a more proximal inverted duplication. While this rearrangement and its proposed mechanisms were reported more than 25 years ago, it has been the recent application of FISH and array CGH that has allowed for better characterization of the abnormalities and the elucidation of pathogenetic mechanisms. In addition to these two papers, I draw the reader's attention to the recent article by Rowe et al. in the Journal of Medical Genetics  for an in depth discussion of the mechanism and some of the background. What is now clear is that this rearrangement originally described in 1976 on 8p has been reported in most chromosomes. John C. Carey, MD Editor-in-Chief
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