Syracuse

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

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Jacquemont, M. - L. | Sanlaville, D. | Redon, R | Raoul, O. | Cormier-Daire, V. | Le Merrer, M. | Heron, D. | de Blois, M. - C. | Prieur, M. | Vekemans, M. | Carter, N. - P. | Munnich, A. | Colleaux, Laurence | Lyonnet, S. | Amiel, P. | Philippe, A.

Edité par CCSD ; BMJ Publishing Group -

International audience. Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stereotyped interests and activities. ASD is prevalent in 1 to 3 per 1000 people. Despite several arguments for a strong genetic contribution, the molecular basis of a most cases remains unexplained. About 5% of patients with autism have a chromosome abnormality visible with cytogenetic methods. The most frequent are 15q11-q13 duplication, 2q37 and 22q13.3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling.

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