Sindrome X frágil en una Familia Colombiana

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

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

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionFragile x syndrome in a Colombian family
Original languageSpanish
Pages (from-to)76-85
Number of pages10
JournalIatreia
Volume31
Issue number1
DOIs
StatePublished - Jan 1 2018

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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