Definition:
Fragile X Syndrome is a defect in the X chromosome. This condition is the cause of mental retardation in people. People with defective X chromosomes exhibit various signs and symptoms. Those who have this body condition possess chromosomes which are fragile, prone to tear and break downs. Fragile X syndrome affects 1 in every 2,000 males.
Diagnosis:
Diagnosis can be done through cell culture (through folate deficient media). Here X-chromosome deficiencies and fragility will be assessed and analyzed. A more reliable method would be analysis of CGG repeat numbers and methylation status. These are done through Southern blot analysis and restriction endonuclease digestion.
Treatment:
Regular treatment will involve specialize education and various speech and occupational therapies. Behavior may also undergo modification programs. Surgical procedures may be required in complex cases such as corrections of heart defects. Patients and families are advised to undergo genetic counseling. Folic acid intake helps improve hyperactive behaviors and attention deficiencies in some emerging adolescents.
Symptoms and Signs:
Some symptoms are mild to severe mental handicap or retardations. Physical signs will be larger ears, large jaw (called prognathism), large forehead, and also large testes (called macroorchidism). Affected people also show speech impairments and autistic symptoms. Faces are typically long and quite narrow.
Causes:
This condition is genetic. They are caused by gene changes in actually the same gene. This specific gene is called the FMR1 gene. Fragile X can be passed on in the family line.
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