Resumo

SALDARRIAGA-GIL, Wilmar et al. Sindrome X frágil en una Familia Colombiana. Iatreia [online]. 2018, vol.31, n.1, pp.76-85. ISSN 0121-0793.  https://doi.org/10.17533/udea.iatreia.v31n1a07.

A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis.

The proband was diagnosed with Fragile X syndrome by DNA molecular testing and, cascade testing, performed on all available family members, identifying two additional individuals with the full mutation and four carriers of a premutation allele.

With this report we seek to contribute to Colombian epidemiology of the syndrome and emphasize the importance of diagnosis to provide a comprehensive and specific treatment to those affected. Further we seek to identify premutation carriers in their families or women with a full mutation without the classic phenotype for genetic counseling and education about potential associated pathologies.

Palavras-chave : FMRP; Fragile X Syndrome; Genetic Counseling; Intellectual Disability.

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