Gorovitz & Borten, P.C.
Attorneys at Law

550 Cochituate Road, Suite 25
Framingham, Massachusetts
01701
Tel: (781) 890-9095
Fragile X Syndrome
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.
Contact Information
For a free confidential consultation and receive a response within 24 hours (when
possible), please contact us by phone, fax or e-mail with your question or concern.

Telephone:  781-890-9095     -     Fax:   781-890-9098
                                                                                                 
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