How to cite this article: Mosca AL, Callier P, Faivre L, Marle N, Mejean N, Thauvin-Robinet C, Masurel-Paulet A, Madinier N, Durand C, Couillaud G, Ragot S, Huet F, Teyssier JR, Mugneret F. 2009. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. Am J Med Genet Part A 149A:475–481.
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication†
Version of Record online: 11 FEB 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 3, pages 475–481, March 2009
How to Cite
Mosca, A.L., Callier, P., Faivre, L., Marle, N., Mejean, N., Thauvin-Robinet, C., Masurel-Paulet, A., Madinier, N., Durand, C., Couillaud, G., Ragot, S., Huet, F., Teyssier, J.R. and Mugneret, F. (2009), Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. Am. J. Med. Genet., 149A: 475–481. doi: 10.1002/ajmg.a.32665
- Issue online: 24 FEB 2009
- Version of Record online: 11 FEB 2009
- Manuscript Accepted: 4 OCT 2008
- Manuscript Received: 6 MAY 2008
- inv dup del (9p);
- 22q11.2 microduplication;
Polymicrogyria (PMG) is a relatively common malformation of the cortex for which the pathogenesis remains poorly understood. Both acquired and genetic causes are known, and to date more than 70 cases of PMG have been associated with chromosomal abnormalities. Here we report on a 12-year-old girl presenting with asymmetrical PMG predominantly affecting the right occipital lobe. She was the only child of consanguineous parents. At 7 years of age she was referred for mental retardation with speech delay and seizures. Cytogenetic studies of the patient revealed an inverted 9p duplication/deletion and bacterial artificial chromosomes (BACs)-array also showed a 22q11.2 microduplication confirmed by quantitative PCR. This case is of interest in the search for candidate genes and emphasizes the importance of the 22q11 region in PMG. It also highlights the efficiency of BACs-array in detecting complex rearrangements. © 2009 Wiley-Liss, Inc.