HELP DOC's!!! What is a Fragile X Syndrome??? PLZ answer!!?!


Question: HELP DOC's!!! What is a Fragile X Syndrome!?!?!? PLZ answer!!!?
Im doing a powerpoint on this and i need to know what it is!.
For Example plz answer:
1) How prevalent is the disease in the population!?
2) how the disease is diagnosed!?
3) what are the physical symptoms of the disease!?
4) how can the disease get treated
5) how possible is it that a cure will be found!?
6) What is the chances os someone having or passing this disease!?
What is the life expectancy of someone with the disease!?
7) what is everyday life like!? what is the quality of life!?
8) what limitations does the person have!?
9) What are some organization that can help a family cope with a child's disorder!?



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Answers:
1The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome!. Mutation at that site is found in 1 out of about every 2000 males and 1 out of about every 259 females!. (Incidence of the disease itself is about 1 in every 4000 females!.)


2Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by cytogenetic analysis of the long arm of the X chromosome!. This technique proved unreliable for both diagnosis and carrier testing!.

The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using restriction endonuclease digestion and Southern blot analysis


3Not everyone with Fragile X has the same signs and symptoms, but they do have some things in common!. Symptoms are often milder in girls than in boys!. Here are some common signs of Fragile X:
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