Fragile x is a genetic mutation that is caused by a full mutation by The FMR1 gene. now, this mutation can be serve to the person being full functioning.
the FMR1 gene makes repeats of CGG proteins up to 220 and causing the full mutation. and the protein called FRMP when the protein is switched off
problems occur like thinking, learning and even behavioral and social problems.
and mental health problems like axenity.
males get more affected than females. because males have only one x chromosome the severity can be bad. Males can also have sensory disorders.
they can have ADD ADHD or austim and behavioral issues
Testing and getting a Diagnosis
through either DNA testing or a blood test.
and there needs to be a family history of fragile x.
and a genetic consular will determine the diagnosis
Now how does mutation get passed?
Through the mother or father. they pass the mutation to their daughters or sons.
Females can be carriers if they have under certain amount of repeats.
Physical features
long face and big ears.
Is Fragile X rare?
Yes fragile x is rare and doctors and scientist don't know much about this disorder only recently discovered in the 1990's
so a lot of research is being done to figure out the long term affects.
if you're instering in learning more I am linking the national fragile x foundation's website's
https://fragilex.org
If you have any questions or want me to cover topics please comment them down below.
Thank you for reading
-T
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Life with fragile x
Non-FictionThis about living with fragile x and how it affects me. you may know me as femalefetale22 but this account is more for educational purposes and talking a genetic disorder. this isn't going to be a normal story. but please enjoy
