[Etiologic evaluation of genetically-caused mental retardation. Diagnostic algorithm and new molecular techniques].
Mental retardation affects 1-3% of the population. Its etiology is heterogeneous and approximately 47% of cases are caused by genetic factors. The aim of this paper is to report on etiologies of mental retardation, to present updates on new technologies of molecular diagnosis, and to analyze their limitations for the appropriate and rational use of them. Finally, an algorithm based on genetics is suggested for the study of mental retardation by reporting on the techniques available in Argentina and in developed countries. A well-defined etiology will lead to the proper management of children with mental retardation, and suitable family counseling.
del Valle Torrado
María
M
Servicio de Genética, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan. mtorrado@fibertel.com.ar
D000465:Algorithms; D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping; D025202:Molecular Diagnostic Techniques