Genotype-Phenotype Correlates in Fragile X Syndrome

Abstract

Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected than females. It is characterized by intellectual and learning disabilities, behavioral and or psychiatric comorbidities, mildly dysplastic connective tissue, and large testes. Fragile X cases have more than 200 repeats of the trinucleotide CGG at a fragile locus of the X chromosome (Xq27.3) which affords the basis of the molecular diagnosis of the syndrome. Although there is no current curative treatment of Fragile X syndrome, there are many available therapeutic modalities that can be used to control its manifestations and improve the quality of life of its sufferers. Lastly but by no means least, it is well documented that the earlier the diagnosis and implementation of early intervention and individualized rehabilitation programs, the better the prognosis.