Abstract

INTRODUCTION:

Mental retardation is a frequently occurring disorder with a major impact on the life of the affected person, the family and society, with an estimated incidence of 1-3% in developed countries. Among the etiologies that cause mental retardation it would appear that 30% have a genetic origin, 15% have an environmental origin, and the rest have an unknown origin. AIM. To report the genetic causes of mental retardation and the new molecular techniques used in order to reach a diagnosis. The identification of the causes of mental retardation is of great interest due to the consequences it has in the intervention, prognosis, estimation of risk of recurrence and its prevention.

DEVELOPMENT:

Causes of mental retardation are extremely heterogeneous. Genetic causes can be classified as chromosomal alterations (aneuploidies, subtelomeric rearrangements, microdeletion or microduplication syndrome), monogenic, metabolic, or multifactorial alterations. Thanks to the development of high-resolution new techniques -comparative genomic hybridization (CGH) arrays, and multiplex ligation probe amplification (MLPA)- now we are able to detect microdeletions and microduplication all over the genome, which might be related with mental retardation.

CONCLUSIONS:

The genetic causes of mental retardation are highly heterogeneous and complex. Nowadays and thanks to the new molecular techniques we are able to perform several studies, even though almost half of cases remain undiagnosed. In those undiagnosed cases with positive familial history a genetic counseling can be provided. However, in order to perform a prenatal or a preimplantational study a genetic diagnosis is required.