Publications by authors named "Angela Pugin"
Article Synopsis
- Fragile X syndrome (FXS) is the most common inherited intellectual disability and is linked to mutations in the FMR1 gene, specifically an expansion of CGG repeats.
- A study of 2,321 individuals in Chile revealed a higher prevalence of CGG expansions (8.8%) among those diagnosed with FXS compared to other populations.
- The research utilized reliable techniques like PCR and Southern blot for confirmation, finding that a significant number (60%) of family members also had CGG expansions, with average diagnosis occurring at age 8.8 years.
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but subtelomeric fluorescence in situ hybridisation (Subt-FISH) and subtelomeric multiplex ligation-dependent probe amplification (Subt-MLPA) have been the most frequently used. However, the diagnostic yield of each technique has not been compared.
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