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Acta médica Grupo Ángeles
versión impresa ISSN 1870-7203
Resumen
NAVARRO VIDAURRI, Germán y DOMINGUEZ CARRILLO, Luis Gerardo. Fragile X syndrome. Acta méd. Grupo Ángeles [online]. 2019, vol.17, n.3, pp.259-262. Epub 11-Feb-2022. ISSN 1870-7203.
Introduction:
Fragile X syndrome is an inherited disease linked to the X chromosome that mainly affects men and that causes principally intellectual disability; its etiology is a mutation by expansion of CGG trinucleotide repeats in the FMR1 gene located at region Xq27.3.
Case report:
Preschool of six years old with psychomotor delay, characterized by language and cognitive functions corresponding to two years of age; with phenotypic characteristics compatible with SXF, whose karyotype showed presence of mosaicism for 46, and fra (X) (q27.3), with associated problems of upper airways infection secondary to gastroesophageal reflux.
Conclusions:
Fragile X syndrome represents the most common cause of hereditary mental retardation, intellectual disability and autism, being the second most common cause of mental deficiencies genetically associated, after trisomy 21.
Palabras llave : Fragile X syndrome; intellectual disability; inherited mental retardation.