Resumo

MINGARRO CASTILLO, M.ª Mercedes; EJARQUE DOMENECH, Ismael; GARCIA MORENO, Alfonso  e  ARAS PORTILLA, Luis Miguel. Fragile X syndrome. Rev Clin Med Fam [online]. 2017, vol.10, n.1, pp.54-57. ISSN 2386-8201.

Fragile X syndrome (FXS) is an inherited disease linked to the X chromosome that mainly affects men and that causes principally intellectual disability. In addition it is associated with the phenomenon of genetic anticipation, increasing severity in successive generations. Its etiology is a mutation by expansion of CGG trinucleotide repeats in the FMR1 gene located at región Xq27.3 of the X chromosome with a prevalence in men of 1/4,000 and in women of 1/6,000. In affected families we can find women with premature menopause and persons with FXTAS syndrome, that causes tremor/parkinsonism.

Palavras-chave : Fragile X Syndrome; Intellectual Disability; Inherited Mental Retardation; Genetic Counseling; Menopause, Premature; FXTAS.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )