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 contribution | Fragile x syndrome in a Colombian family |
---|---|
Original language | Spanish |
Pages (from-to) | 76-85 |
Number of pages | 10 |
Journal | Iatreia |
Volume | 31 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1 2018 |
Keywords
- FMRP
- Fragile X Syndrome
- Genetic Counseling
- Intellectual Disability
ASJC Scopus subject areas
- Medicine(all)