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Journal of Biomedicine and Biotechnology
Volume 2007 (2007), Article ID 61538, 4 pages
http://dx.doi.org/10.1155/2007/61538
Case Report

Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder

1Département de génétique médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, BP 796, Rabat 11400, Morocco
2Laboratoire de Génétique, Centre Hospitalier Universitaire de Nancy (CHU), 29 Avenue du Ml. de Lattre de Tassigny, Nancy 54000, France

Received 27 June 2006; Revised 28 December 2006; Accepted 3 January 2007

Academic Editor: Marc Fellous

Copyright © 2007 Karim Ouldim et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder.