Fragile X
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- Today is Marie's first pregnancy check up. She is very excited to have her first child!
- I haven't decided on a name yet, but I’m kind of leaning towards Emily if it's a girl or Jacquess if it's a boy
- Marie is going in for her prenatal genetic screening test because he family has a history of Fragile X Syndrome. These tests are used to find out the chances of the child being affected.
- Hey, Mrs. Nightson, are you ready for the testing?
- I'm so psyched doc!
- Genetic tests are performed on a sample of blood, hair, skin, or other tissues. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder which in this case would be Fragile X syndrome.
- So what exactly is Fragile X Syndrome (FXS)?
- FXS is a genetic disorder caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1. This gene is needed for brain development. With changes in that gene, it causes learning disabilities, low IQ, and late development of basic thinking skills.
- There is no cure for FXS. However, therapy can help people with this disorder learn to walk, talk, and interact with others. This disorder affects 1 in 7000 males and 1 in 11000 females. This makes Fragile X Syndrome the most common inherited intellectual and developmental disability.
- Fragile X Syndrome is inherited in an X-linked dominant pattern . X-linkedmutations are located on the Xchromosome, one of the two sex chromosomes. If the father was a carrier, then he would never give his son the gene. If the mother is a carrier then both a son and daughter could inherit the gene, either premutation or full mutation. If it was premutation, the offspring would just be a character. If it was full mutation, then the offspring would have the disorder.
- Marie right now is veryconcerned about what might happen if the child does have Fragile X Syndrome.
- I really hope these results comeback negative. I would have to change my whole life to take care of this child. I would have to take them to therapy and get all of the medicine and treatment they needed for it, this would be very expensive.
- Since Marie is very worried about what might happen, she decided to look up some information about the Community Resources for people dealing with Fragile X Syndrome.
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