title: [Diagnosis and genetic counseling in mental retardation].
abstract: An accurate diagnosis of a mentally retarded patient is a crucial step to design a successful treatment. The effects of genetic and environmental influences have to be clarified in the etiological approach. For that reason, we have to record a more appropriate family information, detailed prenatal, birth and postnatal patient history, and perform a thorough clinical examination to check for associated major and minor malformations. One of the major question to be resolved when faced with a mentally retarded patient is whether the disease is genetically or environmentally determined. The main purpose of this paper is to describe a general methodology we apply in genetic counselling of mental retardation including diagnosis, risks evaluation and psychological steps that we have to consider when we inform family members at risk.
authors.affiliation: Unidad de Genética y Medicina Molecular, Laboratorio de Análisis Dr. Echevarne, Barcelona, Spain.
authors.forename: J I
authors.initials: JI
authors.lastname: Lao Villadóniga
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000523:psychology; D002869:Chromosome Aberrations; D005260:Female; D005817:Genetic Counseling / Q000379:methods / Q000523:psychology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D008487:Medical History Taking; D011247:Pregnancy; D012307:Risk Factors