Sindrome X frágil en una Familia Colombiana

Translated title of the contribution: Fragile x syndrome in a Colombian family

Wilmar Saldarriaga-Gil, Randi J Hagerman, María Jimena Salcedo, Flora Tassone, Julián Ramirez-Cheyne, Marisol Silva

Research output: Contribution to journalArticle

Abstract

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.

Original languageSpanish
Pages (from-to)76-85
Number of pages10
JournalIatreia
Volume31
Issue number1
DOIs
StatePublished - Jan 1 2018

Fingerprint

Fragile X Syndrome
Mutation
Colombia
Genetic Counseling
Intellectual Disability
Epidemiology
Alleles
Pathology
Phenotype
Education
DNA
Therapeutics

Keywords

  • FMRP
  • Fragile X Syndrome
  • Genetic Counseling
  • Intellectual Disability

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Saldarriaga-Gil, W., Hagerman, R. J., Salcedo, M. J., Tassone, F., Ramirez-Cheyne, J., & Silva, M. (2018). Sindrome X frágil en una Familia Colombiana. Iatreia, 31(1), 76-85. https://doi.org/10.17533/udea.iatreia.v31n1a07

Sindrome X frágil en una Familia Colombiana. / Saldarriaga-Gil, Wilmar; Hagerman, Randi J; Salcedo, María Jimena; Tassone, Flora; Ramirez-Cheyne, Julián; Silva, Marisol.

In: Iatreia, Vol. 31, No. 1, 01.01.2018, p. 76-85.

Research output: Contribution to journalArticle

Saldarriaga-Gil, W, Hagerman, RJ, Salcedo, MJ, Tassone, F, Ramirez-Cheyne, J & Silva, M 2018, 'Sindrome X frágil en una Familia Colombiana', Iatreia, vol. 31, no. 1, pp. 76-85. https://doi.org/10.17533/udea.iatreia.v31n1a07
Saldarriaga-Gil W, Hagerman RJ, Salcedo MJ, Tassone F, Ramirez-Cheyne J, Silva M. Sindrome X frágil en una Familia Colombiana. Iatreia. 2018 Jan 1;31(1):76-85. https://doi.org/10.17533/udea.iatreia.v31n1a07
Saldarriaga-Gil, Wilmar ; Hagerman, Randi J ; Salcedo, María Jimena ; Tassone, Flora ; Ramirez-Cheyne, Julián ; Silva, Marisol. / Sindrome X frágil en una Familia Colombiana. In: Iatreia. 2018 ; Vol. 31, No. 1. pp. 76-85.
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