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Fragile X syndrome

Fragile X syndromeresults in mental disablement and affects both genders, but men are morefrequently affected. When it comes to males suffering from this syndrome, their intellectcan be damaged and their physiology may differ from normal. Their ears may be bigger than usual, they may have a long face and bigreproductive glands. They also tend to have different disabilities during lifesuch as ear inflammation bone issues and joint problems. Males can have someproblems regarding behavior like ADD problems with speech and autistic behavior.Females have similar features although their intellect is not affected as muchas in male population. One in three females has serious intellectual problems.

Thecondition is caused by a genetic mutation located on gene FMR1. The change isin the deoxyribonucleic acid, which causes inactivity of the gene responsible for production of a particularprotein in the body. That is whatcauses all the trouble. A way to cure this condition has not been found yet, but there are numerous therapies that can benefit intellectual and behavioral problems. Also some drugs may beuseful for emotional and behavioral problems.


Fortunately,today we have tests which can show if a genetic change occurred. There are twoways for testing and both are quite reliable. It is also good to know that ifthe condition was present at someone from the family, it is more likely toappear again. If a father is the carrier of the problematic gene, than a femaleoffspring can be affected but sons getting Y chromosome from the father are safe. If mother is a carrier the children of both genders can be affectedseriously. How severe symptoms will be it depends on the degree of a mutation.


Xchromosome is responsible for fragile X syndrome. We know that every woman hasa pair of X chromosomes and man has XY chromosomes. If a woman is a carrier, than the possibility that the affected chromosome will be transferred to achild is 50%. Men who are carriers will transfer the X chromosome to theirdaughters, but the Y chromosome to their sons. It is interesting to say that ifa woman carries a premutation her children can also carry a premutation withoutdeveloping a full mutation but some of them might get a full mutation. If a mother has full mutation and transfers it to a child then a child will suffer fullmutation.

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