[Genetics of mental retardation].
Mental retardation affects nearly 3 % of the population. The causes of these disorders are various and are often not identified. Recent advances focused on the molecular basis of mental retardation. Nearly half of mental retardation syndromes have a genetic origin and the description of molecular, cytogenetic and metabolic alterations in these disorders led to the development of diagnostic tools. Indeed, identifying the precise origin of the mental retardation allows to improve patient care and to refine the prognosis. Moreover, these molecular tools will help the geneticist to evaluate the recurrence risk in the family in the genetic counseling step. On a fundamental point of view, the knowledge of molecular basis of mental retardation will help to understand the biological pathway which constitutes the first step before therapeutic strategies. Every patient with mental retardation should be investigated for causal origin of the disease. We will detail the diagnostic methods necessary to investigate a patient presenting with mental retardation. Then different examples of syndromes including a mental retardation will be chosen to illustrate different clinical situations.
Goldenberg
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A
Service de Génétique, CHU de Rouen, 1 rue de Germont, 76031 Rouen, France.
Saugier-Veber
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P
D000015:Abnormalities, Multiple / Q000235:genetics / Q000523:psychology; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D020732:Cytogenetic Analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D013577:Syndrome