General aspects of the Fragile X Syndrome: main hereditary cause of mental retardation.

Abstract

The divulgation of information on the Fragile X Syndrome (FXS) is necessary not only for the families, but mainly for the health  professionals .  FXS is considered to be the main hereditary cause and the second genetic etiology of mental retardation (MR), being only  surpassed by  the  Down syndrome. The individual suffering from FXS presents a mutation in the gene FMR-1(Mental Fragile Retardation) located in chromosome X. Beyond  MR, the main characteristics are: long face, large ears and macroorchidism. The treatment currently available requires a  multidisciplinary approach combining therapeutical strategies, special education and medicine used  in accordance with the specific necessities of each carrier. The FXS is deserving great attention, not only because of its prevalence, but also because of the peculiarities of its transmission and the problems it causes. It is  very important to identify the families in which the alleles are segregating in the form of  premutation  in order to give a better orientation during the genetic counseling.