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 language | Spanish |
|---|---|
| Pages (from-to) | 76-85 |
| Number of pages | 10 |
| Journal | Iatreia |
| Volume | 31 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2018 |
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Keywords
- FMRP
- Fragile X Syndrome
- Genetic Counseling
- Intellectual Disability
ASJC Scopus subject areas
- Medicine(all)
Cite this
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 journal › Article
}
TY - JOUR
T1 - Sindrome X frágil en una Familia Colombiana
AU - Saldarriaga-Gil, Wilmar
AU - Hagerman, Randi J
AU - Salcedo, María Jimena
AU - Tassone, Flora
AU - Ramirez-Cheyne, Julián
AU - Silva, Marisol
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
KW - FMRP
KW - Fragile X Syndrome
KW - Genetic Counseling
KW - Intellectual Disability
UR - http://www.scopus.com/inward/record.url?scp=85040067865&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85040067865&partnerID=8YFLogxK
U2 - 10.17533/udea.iatreia.v31n1a07
DO - 10.17533/udea.iatreia.v31n1a07
M3 - Article
AN - SCOPUS:85040067865
VL - 31
SP - 76
EP - 85
JO - Iatreia
JF - Iatreia
SN - 0121-0793
IS - 1
ER -