Medical Questions » Syndrome Questions » Question No. 975
| Question: | 30 years ago my son was born mildly mentally retarded. No-one then could explain what was wrong, but I have recently heard of the fragile X syndrome. Could my son be suffering from this? Can you tell me more about this syndrome? |
| Answer: | The X and Y chromosomes determine an individual' s sex. Males have an X and a Y chromosome (XY), while women have two X chromosomes (XX). In women, if one X chromosome is faulty, the other one can take over. In men, if the one X chromosome is faulty (fragile), there is no back up, and so the abnormalities become apparent.
The fragile X syndrome occurs almost entirely in males, but females can carry this inheritable complaint from one generation to the next. It is responsible for about a quarter of all cases of mental sub normality in men, and can be diagnosed by pathological examination of the genes in a cell sample that may be taken from the blood after birth, or by a biopsy of the placenta before birth.
Men with this syndrome suffer from mental retardation, excess activity, epilepsy and autism. They are often large babies, with large ears, forehead and jaw. Other problems may include short sightedness, enlarged testes, cleft palate and slack joints.
There is no cure, and treatment involves the use of appropriate support services and medication to reduce excitement and excess activity. You could have genetic tests performed to see if this is the reason for your son' s problems. Genetic counselling of families in which this condition occurs is essential.
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