LYCOS RETRIEVER
Fragile X Syndrome: Families
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Recommending prepregnancy or prenatal fragile X syndrome screening to women with a family history of fragile X syndrome or mental retardation and to women with learning difficulties, mental retardation, or both is advisable. All women who are known carriers of the premutation or full mutation should be offered prenatal testing.
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When the diagnosis of fragile X syndrome is made for your child, it is often helpful to talk to another family with a child who is similarly affected. The National Fragile X Foundation, at 1-800-688-8765 or http://www.fragilex.org has a list of resource centers, parent support groups, and educational materials. It is helpful to call them directly for educational information and the phone number of a parent nearest you.
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As a diagnosis, fragile X affects not only the child and parents, but the siblings, aunts, and cousins who may be at risk for passing on the mutation. Pediatricians need to take some responsibility for prevention in the extended family, Dr. Lachiewicz commented. "It's not enough to say, 'You might consider seeing a genetic counselor.' They should be saying, 'Your family needs genetic counseling.'"
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Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
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Fragile X can be passed on in a family by individuals with no apparent sign of the condition. In some families it is a problem which has been occurring for decades, affecting numerous family members through the generations, while in others, it seems to have caused problems in only one person.
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There are now very good tests to determine whether a person has fragile X, which consist of DNA studies of a blood sample. DNA testing should be carried out if a person has an intellectual disability of unknown cause, is developmentally delayed or has characteristics like autism. If a family member is known to have fragile X, other members should be tested. Women thinking about getting pregnant should be tested if any of the usual signs of fragile X are present in any family members. A pregnant woman can have her foetus tested.
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