Hello, Doctor. I am Zack from Africa, specifically Tunisia. I have a 26-year-old brother who has one of these conditions. I want to diagnose him. He has many epileptic seizures and does not realize anything. I hope I can communicate with you doctor and help me even with simple information I do not speak English. I use a translator. I hope you understand what I am trying to say
Interesting the mechanics sound similar to how variola changes the physical size of its genome - a positive in the virus but potentially catastrophic for humans. I wonder where that "spring" like section originated
Can you explain please, why if passed down paternally no further CGG expansion occurs, while if passed down (inherited) maternally there is a risk for expansion of the risk region? I am talking about the following: "There have been no reports of premutations that are passed from a father to his daughter expanding to a full mutation. This appears to only occur when passed from a mother to her children."
As far as genetic concerns no male to male transmission is allowed. This means affected father cannot pass the variant (FMR1) gene to his son, but will pass it to his daughter. As we know female have one backup X chromosome unlike males. Now answering your question, most females do not show full Fragile X syndrome because of the process called X-inactivation or X skewing. Please feel free to correct me if I am wrong because I am still student.
I forget to mention about one more thing Some of the triplet repeat disorders demonstrate gender differential anticipation: that is to say, repeats have a high chance of expansion if inherited from a father, but remain stable if inherited from a mother, or vice versa.
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