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Fragile X Syndrome
Medical Questions » Fragile X Syndrome
| Name: Fragile X Syndrome |
| Also known as: |
| Inherited cause of mental retardation in males. |
Causes of Fragile X Syndrome
Abnormal gene carried on the X chromosome. Men have only one X sex chromosome matched to a small Y sex chromosome, while women have two X sex chromosomes and the faulty gene' s activity can be replaced by the
one on the good X chromosome. Women carry the abnormal gene from one generation to the next. |
Symptoms of Fragile X Syndrome
Mental retardation, excess activity, epilepsy and autism (see separate entry). Often large babies, with large ears, forehead and jaw. |
Tests for Fragile X Syndrome
Diagnosed by examination of the genes in a cell sample taken from the blood after birth, or by a sample from the placenta taken before birth. |
Treatment for Fragile X Syndrome
No cure. Treatment involves the use of appropriate support services and medication to reduce the excitement and excess activity. Genetic counselling of families is essential.
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Complications of Fragile X Syndrome of its treatment
Short sightedness, enlarged testes, cleft palate and slack joints. |
Likely Outcome of Fragile X Syndrome
Life long disability. |
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