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Adults with fragile x syndrome

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Medically reviewed by Drugs. Last updated on Jul 15, Fragile X syndrome is an inherited disorder associated with mental retardation and a particular appearance. This gene is found on the X chromosome, one of the two chromosomes X and Y that determine gender. In people with fragile X, a particular section of the DNA code — CGG — is "fragile" and gets repeated an unusually large number of times, compared with the normal 5 to 50 times.
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Fragile X Syndrome – Symptoms and Signs

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Fragile X Syndrome. What is fragile X syndrome? Information | Patient

Acta Neuropathologica. Fragile X syndrome [fra X ] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported. The autopsy examination of a year-old, moderately retarded man with the fra X syndrome confirmed the preferential involvement of cerebral and testicular structures in this disorder. Dendritic spine abnormalities of the type observed in trisomic chromosomal disorders were associated with synaptic immaturity. Severe testicular hypogonadism accompanied bilateral macro-orchidism , normal penis, and unilateral hydrocele.
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Fragile X Syndrome: Symptoms, Treatment, Life Expectancy, Prognosis, Causes

Fragile X is a genetic condition that affects both boys and girls, although boys are often more severely affected. It can cause a range of issues with language, emotions, attention, behaviour and social interaction. Of the people who have Fragile X, nearly all boys will have a learning disability but only a third of girls. The learning disability could be mild, moderate or severe, which will affect the amount of support the person needs day-to-day. Someone with Fragile X might have a short attention span, be easily distracted, act impulsively, feel restless, be very active, and have heightened senses, but no two people are the same.
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The goal of the Fragile X Clinic is to provide a comprehensive array of testing and evaluation services for children and adults with Fragile X syndrome and Fragile X-Associated Disorders FXD , as well as provide referral services as necessary. Assessments at the Fragile X Clinic are tailored to your child's specific needs, and therefore differ based upon individual circumstances. A full, comprehensive assessment protocol at the clinic requires two days, whereas consultations for medication adjustment or record review typically require a few hours. After reviewing your relevant documents, a clinician at the Fragile X Clinic will determine what appointment or appointments are best suited for your situation.
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