Monthly Archives: July 2022

What is Fragile X Syndrome?

WHAT IS FRAGILE X SYNDROME? Fragile X syndrome (FXS) is the most common inherited cause of mental retardation with approximately 1 in 4,000 men affected. In the vast majority of cases, this X-linked disorder is caused by CGG repeats in the 5′ untranslated region (UTR) of the FMR1 gene. FXS-causing alleles, or full-length mutations, contain…

Cystic fibrosis

CYSTIC FIBROSIS In Mexico every year there are 350 new cases of cystic fibrosis. Neonatal screening is a test to detect this disease before symptoms appear. However, this is not a confirmatory test and does not detect cystic fibrosis in all patients. In addition, it is important to know what mutation is presented for adequate…