Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. - Archive ouverte HAL Access content directly
Journal Articles Journal of Medical Genetics Year : 2006

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

R Redon
  • Function : Author
N. - P. Carter
  • Function : Author

Abstract

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.

Domains

Human genetics

Dates and versions

hal-02087878 , version 1 (02-04-2019)

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Cite

M. - L. Jacquemont, D. Sanlaville, R Redon, O. Raoul, V. Cormier-Daire, et al.. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.. Journal of Medical Genetics, 2006, 43 (11), pp.843-9. ⟨10.1136/jmg.2006.043166⟩. ⟨hal-02087878⟩
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