I own a nephew (my sister's son) who have Fragile X (and Autism) and I thought that it took several generation to surpass on the mutated gene to where on earth it become a full mutation. However, I simply cultured today by going to a genetic counselor that it doesn't necessarily nick several generation. It could own started beside my nephew, or beside my sister (boys can merely win it from mom), etc.
So my query is: Does anyone own someone surrounded by their ethnic group diagnosed near Fragile X and did your house trace it rear legs to see where on earth it come from or no? Do you know how masses generation backbone you own some nature of pre-mutation?
Thanks for the facilitate.. I get a blood trial today and will find out in 2-3 weeks if I am a mover...
Answers:
To start - it would depend on how do you set down several?
In combination, although it's not adjectives in that could be a deletion of the gene (FMR1) which would impose Fragile X syndrome.
I can trace Fragile X posterior to my grandfather (his repeats be 80 and we assume, that his mother be a owner, but she died within the rash 1900's. It wasn't until I have a son next to a full-mutation that we even know FX existed within our loved ones - we have no history of mental retardation, developmental delay or autism. My elder sister in fact have a full-mutation of FX and we didn't know until my son be diagnosed and she be tested. She have two children and didn't elapse on the gene.
It is substantial that you do trace it backbone not merely to identify individuals who might own a child beside fragile X syndrome but also to identify carrier who might be at risk for Premature Ovarian Failure or FXTAS.
The fragile X researchers own made great stride within the second decade - at hand are certainly meds contained by human clinical trials designed specifically to treat and even reverse some of the symptoms of FX. Having the right diagnosis may hold a direct impact on an individual next to FX - beside a misdiagnosis when bright and enhanced treatments are available you may never know.
Just for extra info:
The MIND Institute in Sacramento, CA is studying Fragile X plentifully. If you want info. on it, or if your nephew can be in experiments on it, Google it & you can find out the research projects going on, & perchance info. you'd resembling to know.
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So my query is: Does anyone own someone surrounded by their ethnic group diagnosed near Fragile X and did your house trace it rear legs to see where on earth it come from or no? Do you know how masses generation backbone you own some nature of pre-mutation?
Thanks for the facilitate.. I get a blood trial today and will find out in 2-3 weeks if I am a mover...
Answers:
To start - it would depend on how do you set down several?
In combination, although it's not adjectives in that could be a deletion of the gene (FMR1) which would impose Fragile X syndrome.
I can trace Fragile X posterior to my grandfather (his repeats be 80 and we assume, that his mother be a owner, but she died within the rash 1900's. It wasn't until I have a son next to a full-mutation that we even know FX existed within our loved ones - we have no history of mental retardation, developmental delay or autism. My elder sister in fact have a full-mutation of FX and we didn't know until my son be diagnosed and she be tested. She have two children and didn't elapse on the gene.
It is substantial that you do trace it backbone not merely to identify individuals who might own a child beside fragile X syndrome but also to identify carrier who might be at risk for Premature Ovarian Failure or FXTAS.
The fragile X researchers own made great stride within the second decade - at hand are certainly meds contained by human clinical trials designed specifically to treat and even reverse some of the symptoms of FX. Having the right diagnosis may hold a direct impact on an individual next to FX - beside a misdiagnosis when bright and enhanced treatments are available you may never know.
Just for extra info:
The MIND Institute in Sacramento, CA is studying Fragile X plentifully. If you want info. on it, or if your nephew can be in experiments on it, Google it & you can find out the research projects going on, & perchance info. you'd resembling to know.