How to cite this article: Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I. 2009. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. Am J Med Genet Part A 149A:2513–2521.
Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes†
Article first published online: 19 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2513–2521, November 2009
How to Cite
Vera-Carbonell, A., Bafalliu, J. A., Guillén-Navarro, E., Escalona, A., Ballesta-Martínez, M. J., Fuster, C., Fernández, A. and López-Expósito, I. (2009), Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. Am. J. Med. Genet., 149A: 2513–2521. doi: 10.1002/ajmg.a.33055
- Issue published online: 28 OCT 2009
- Article first published online: 19 OCT 2009
- Manuscript Accepted: 19 JUL 2009
- Manuscript Received: 1 JUN 2009
- Ministerio de Ciencia y Tecnología. Grant Number: SAF 2003-03894
- Fundación Séneca. Grant Number: 05829/PPC/07
- deletion inverted duplication 5p;
- FISH analysis;
- array-CGH analysis;
- cri-du-chat syndrome;
- trisomy 5p syndrome
Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley-Liss, Inc.