Fragile X syndrome is the most common inherited cause of mental retardation. Behavioral changes consistent with mental retardation, developmental delay, autism spectrum and progressive facial characteristics are associated with fragile X syndrome. Screening for fragile X syndrome is available to women of reproductive age. Preimplantation genetic assessment as well as prenatal diagnosis is indicated in women with a positive family history should be screened for this condition.
Changes in a specific region of the X chromosome known as 'fragile X mental retardation (FMR-1) gene are responsible for the syndrome. Premutation and expanded mutation (full mutation) are progresive changes that occur only from the maternal cell line. Typically, all sons who inherit a full mutation exhibit features of fragile X syndrome. In daughters who inherit a full mutation, 50% to 75% will have IQs in the borderline or mentally retarded range.
Because 1 in 113 to 350 will be a carrier of a fragile X syndrome, screening for fragile X syndrome should be considered in men and women with:
family history of fragile X syndrome
a relative with undiagnosed mental retardation
family history of premature ovarian failure
men with neurologic syndrome of tremors and ataxia
If the child's injury was diagnosable, avoidable or preventable, or plainly resulted from a medical provider's mistake in handling an obstetrical condition, the parents and the child are entitled to receive compensation. If your child's condition was the result of medical negligence, Dr. Borten and the Boston area medical malpractice attorneys at Gorovitz & Borten can help you assert your rights and get the compensation you deserve.
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