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Fragile X Syndrome



One of the most common inherited causes of mental retardation is the Fragile X Syndrome.  Its symptoms include mental retardation of varying severity, learning difficulties, attention deficit hyperactive disorder (ADHD), etc.  Affected males generally have enlarged ears, long face and prominent chin, autistic-like behavior and speech impediments.  Connective tissue abnormalities may also be present, which may lead to ear infections, flat feet, double-jointed fingers and other skeletal problems.  It predominantly affects males, although females may also be affected but with less pronounced symptoms.  Affected females also tend to express extreme shyness, attention problems and depression.


Fragile X Syndrome is an X-linked disorder caused by mutations on the FMR1 gene, which is involved in brain development.  The FMR1 gene contains a region where the DNA sequence is repeated several times.  An individual with a few more than normal number of repeats of this sequence is considered a carrier of this disease.  A carrier generally does not show any symptoms.  An estimated one in three hundred women are carriers.  An individual affected with Fragile X Syndrome has a significantly higher number of repeats than a carrier and is referred to as a “full mutation” patient.


There is currently no cure for Fragile X syndrome.  Treatments for Fragile X deal not with the underlying disorder but with the symptoms.  These include various medications to address any aggression, anxiety or attention disorder that affected individuals might experience.  Patients are usually enrolled in special education, undergo speech and physical therapy.  Due to the varying extent of these symptoms, it is important that each patient be carefully diagnosed so a treatment plan may be devised specifically for the needs of that patient.


Couples who are at risk of having a child with Fragile X Syndrome can now take advantage of a new technology called Pre-Implantation Genetic Diagnosis (PGD).  Through PGD, an embryo conceived through IVF may be tested for a known genetic defect, such as Fragile X Syndrome.  Embryos determined not to be affected are implanted into the uterus.  At risk couples can have reassurance that a debilitating disease will not affect their child.



Click here for more information on PGD


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Last modified: 06/09/04