Fragile X-Associated Disorders: A Woman’s View from the Heart of the Family

6/4/2015; 57 minutes

Fragile X syndrome is the most common inherited form of intellectual and development disabilities that is often accompanied by significant behavioral problems. It is due to a dynamic repeat sequence
mutation in the X-linked FMR1 gene that occurs in about 1/4000 males and 1/8000 females. All mothers of children with FXS carry the FMR1 mutation in some form, most often the "premutation" form.
There are other possible manifestations of the premutation, possibly exacerbated by genetic and environmental factors,which are just now being realized. Women with the premutation play a central role in the lives of their family members, commonly caring for a child and parent with fragile X related disabilities —this role demands their good health and well-being.

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