Fragile X Syndrome
If a mutation occurs during female X chromosome inheritance through generations, an inherited genetic condition called fragile X syndrome can occur. This condition occurs in every 1 in 1,600 females and is characterized by intellectual and physical features. The severity varies and females' symptoms tend to be less severe than males' symptoms. However, this condition affects more females than males.
A mutation affecting a gene on the X chromosome's long arm is responsible for causing this condition. Patients with this condition will usually have a full mutation. Those with this condition can experience intellectual impairment, connective tissue problems, long face, enlarged ears, prominent chin, and certain behavioral characteristics, such as speech disturbances, hand flapping, poor eye contact, attention deficit disorders, hand biting, autistic behaviors, and abnormal responses to various auditory, touch, or visual stimuli.
There is no cure for this disorder. Treatment involves treating the symptoms. Therapies such as special education, occupational therapy, language therapy, and behavioral therapies help people with fragile X syndrome cope with this condition. Certain medications may also be beneficial, particularly to help lessen aggression, hyperactivity, anxiety, and poor attention span. Each treatment plan will be tailored to the individual patient. This plan will be tailored after the individual is tested to determine the severity of his symptoms. There are also tests available to determine if a person has this genetic mutation and these include the Southern Blot analysis and the polymerase chain reaction analysis.