A family with intellectual disability in boys
A pregnant patient had a history of intellectual disability in her nephews. Genetic counseling followed by genetic testing for Fragile X was done on her blood sample (Fragile X syndrome is the most common inherited cause of intellectual disability in boys). She was detected to have carrier status. A carrier mother has 50% risk of having a male child with Fragile X syndrome. She underwent amniocentesis for Fragile X and the baby was disease free. Genetic counseling and testing helped this family know the cause of the problem and prevented the further occurrence of boys with intellectual disability in future generations.