Open AccessArray-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
Author(s) -
M-L Jacquemont,
Damien Sanlaville,
Richard Redon,
O Raoul,
Valérie CormierDaire,
Stanislas Lyonnet,
Jeanne Amiel,
Martine Le Merrer,
Delphine Héron,
M-C de Blois,
M Prieur,
Michel Vekemans,
N P Carter,
Arnold Münnich,
Laurence Colleaux,
Anne Philippe
Publication year - 2006
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmg.2006.043166
Subject(s) - autism , gene duplication , comparative genomic hybridization , genetics , karyotype , abnormality , genetic counseling , biology , autism spectrum disorder , chromosome , segmental duplication , copy number variation , microarray , chromosomal abnormality , genome , gene , bioinformatics , computational biology , medicine , psychiatry , gene family , gene expression
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.