Friday 20 April, 2012

Hii friends!!!!!!!, I am new here and very much surprised and happy to read all the blogs. Here, many have shared their happy & sad stories of their own experiences. I too have one to share with all of you.
I am Indian, the country of many religions, languages, festivals and many more. It has many unique things which other countries do not have, but have Fragile X syndrome as all other countries. 



The Fragile X syndrome is caused by a "fragile" site at the end of the long arm of the X-chromosome. It is a genetic disorder that manifests itself through a complex range of behavioural and cognitive phenotypes and is directly related to developmental disorders or delays, the signs for the disease are recognized when the child shows reluctance or inability to meet the developmental milestones as he grows up.It is the result of genetic mutation which varies considerably in severity among patients. 
Fragile X syndrome is the most common cause of inherited mental retardation. Although it is a X-linked recessive trait with variable expression and incomplete penetrance, 30% of all carrier women are affected.   
      
The diagnosis of Fragile-X syndrome is made through the detection of errors in the FMR1 gene. Over 99% of individuals have a full mutant FMR1 gene. Tests used for diagnosis include chromosome analysis and various protein tests. Diagnosis is usually made when young, and there is no current cure for this illness. Early diagnosis of the syndrome call allow for therapeutic interventions like speech therapy, occupational therapy, psychotherapy and special education, that can considerably improve the quality of the patients' life.


As, in current scenario, we don't have any cure, I should suggest would be mothers to go for genetic testings. If you are pregnant and a fragile X carrier, you may  have a child with the same syndrome after his/her birth. If you are a woman carrying a fragile X pre-mutation, you have a 50% chance of passing on the affected gene to each child you have. If you are a man with a pre-mutation, you will pass it on to your daughters, but not your sons. In the unlikely event that both parents carry a pre-mutation, the chances of getting a changed gene are 100% for their daughters and 50% for their sons. To discover whether your unborn child has inherited changes in the fragile X gene, you and your partner can get prenatal testing. Prenatal DNA testing is available if you have a family history of fragile X or of unexplained intellectual disability. There are two common ways of obtaining DNA from fetal cells....I think is is suffieicent for the day...will come back with more helpfull facts and information for this blog readers....

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