Fragile X Syndrome: A Case Study

Introduction: Fragile X syndrome (FXS) is known to be the most common cause of inherited mental retardation and autism and is the second most common cause of genetically associated mental deficiencies, after Down syndrome. It is a trinucleotide repeat disorder resulting from an expansion in a CGG repeat in the region of the fragile X mental retardation-1 gene (FMR1) on the X chromosome (more than 200 repeats were found in the full mutation, while the normal number of repeats is 6–54 repeats).
Aim of work: To assess the effectiveness of family screening in early diagnosis of Fragile X syndrome.
Methods: Meta-analysis, randomized controlled trials, a prospective approach and case control studies were revised of family screening implemented on