[Interest of studying subtelomeric abnormalities by in situ fluorescent hybridization to explore idiopathic mental retardation]

ABSTRACT

Nowadays, the genetic basis of mental retardation is a huge field of investigations. Genetic abnormalities frequently give rise to a mental retardation phenotype and are observed in 10 to 40% of known etiologies. New syndromes have identified [chromosome 1p, 22q, 3q29 and 9q34] but for 60% of patients there is no etiology because there is no characteristic phenotype. Many studies involve subtelomeric duplications and deletions in idiopathic mental retardation. The auteurs describe and discuss the interest and the limits of telomeric FISH [Chromoprobe Multiprobe T System] in exploring mental retardation