What Is Genetic Disorder - Fragile X Syndrome
Fragile X syndrome is associated with fragile gap at the end of the X chromosome long arm in the lymphocytes which grow in the folate deficient media.
Fragile X syndrome occurs due to increase in the number of CGG repeats in FMR -gene on the X chromosome.
Patient with fragile X syndrome may present with symptoms and signs such as large testes ( macroorchidism), elongated face with large ears and jaw, severe cases of mental retardation, mitral valve prolapse and hyperextensible joints.
Female with fragile X syndrome may present with less clinical manifestation than male.
Fragile X syndrome, myotonic dystrophy, Huntington disease may exhibit anticipation. Anticipation occur with increase in the number of repeats throughout each generation which results in more severe disease manifestation.