[Diagnosis and genetic counseling in mental retardation].
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.
Lao Villadóniga
J I
JI
Unidad de Genética y Medicina Molecular, Laboratorio de Análisis Dr. Echevarne, Barcelona, Spain.
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