What are the chances of a person with fragile x syndrome to pass to their offspring (include scenarios)?
any possible scenarios
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Fragile X syndrome is the most commonly inherited form of mental retardation. Although it is thought to be an X-linked recessive trait with variable expression and incomplete penetrance, 30% of all carrier women are also affected. The syndrome is called “fragile-X” because there exists a fragile site or gap at the end of the long arm of the X-chromosome in lymphocytes of affected patients when grown in a folate deficient medium.
"Carrier females typically have a 30 to 40% chance of giving birth to a retarded male and a 15 to 20% chance of having a retarded female. Further, there frequently exists a maternal family history for a relative with mental retardation or developmental and learning disabilities." (
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If you have autism, does that mean you have fragile x syndrome?
Fragile X syndrome makes a child predisposed to autism, but it is not a form of autism in and of itself.
Anything that causes distress to a newborn makes him prone to autism. (
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At what age does fragile x syndrome show up?
Causes
X-linked recessive inheritanceThe fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that site is found in 1 out of about every 4000 males and 1 out of about every 6000 females.
Normally, the FMR1 gene contains between 6 and 53 repeats of the CGG codon (trinucleotide repeats). In people with the fragile X syndrome, the FMR1 allele has over 230 repeats of this codon.
Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein.
This methylation of the FMR1 locus in chromosome band Xq27.3 is believed to result in constriction and fragility of the X chromosome at that point, a phenomenon that gave the syndrome its name.
Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP binds and facilitates the translation of a number of essential neuronal RNAs. In fragile X patients, however, these RNAs are not translated into proteins. The various sequelae of fragile X syndrome .
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Transmission of the Fragile X
The diagram (right) of X-linked recessive inheritance is not entirely inappropriate but it markedly oversimplifies the situation and does not provide a sufficient foundation for genetic counseling about the fragile X syndrome.
Because males normally have only one copy of the X chromosome, those males with significant trinucleotide expansion at the FMR1 locus are symptomatic. They are mentally retarded and may show various physical features of the fragile X syndrome.
Females have two X chromosomes and thus have double the chance of having a working FMR1 allele. Females carrying one X chromosome with an expanded FMR1 gene can have some signs and symptoms of the disorder or be normal.
Males with the fragile X cannot transmit it to any of their sons (since males contribute a Y chromosome, not an X, to their male offspring.)
Females carrying one copy of the fragile X can transmit it to their sons or daughters. Sons who receive the fragile X are at high risk for mental retardation. Daughters who receive the fragile X may appear normal or they may be mentally retarded, usually to a lesser degree than boys with the syndrome.
It can begin at birth (
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Who is the best doctor to see for Fragile X Syndrome?
OK, I will do my best to answer this. Fragile X can cause anywhere from mild mental retardation to severe autism (right???) So the person can see a regular general practitioner, a psychologist, or even a DAN Doctor, who will try to treat the patient through alternative medicine. The website www.autismwebsite.com or www.tacanow.com or the www.gfcfdiet.com might be of help??? Whatever you do, just be calm and do what's right for your individual situation. Good Luck!!! (
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how is the fragile site connected to fragile x syndrome?
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Learning about Fragile X Syndrome?
Im a high school student, and one of the classes im taking "ECE" Early Childhood Development. And well im doing a powerpoint that is based on the birth defect, "Fragile X Syndrome" the only problem is i do not know anything about it...Please help!
What is the birth defect?
Hoe does a person get it?
Can it be prevented?
Who can get it?
What can be done for the child once it is born?
When can this be detected?
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http://www.fragilex.org/html/what.htm
http://www.fraxa.org/ (
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Fragile X Syndrome as an adult?
I have 3 boys and have just learned that 2 of them have fragile X syndrome! They are both extremely mild, thank God! I am just curious if anyone knows an adult or late teen that is mildly affected and if they were able to get a drivers license and live on their own. I am hopeful as any mother would be and hopefully will get an answer I want to hear....Thanks!
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WHy not go here -->>> http://www.medicinenet.com/fragile_x_syndrome/article.htm and read all you can on it~ I would do as much research to learn & find ways to meet the challenges...preparing yourself now is the best way towards striving in a positive direction. Hope this helps...also do a search here in Yahoo answers to see what others say & how they have dealt with...maybe visit www.webmd.com too it is an easy to understand site that may also direct you towards avenues of resolve. Take care~ (
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what is fragile x syndrome?
what is fragile x syndrome?
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What is Fragile X?
Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.
Fragile X includes:
fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.
fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
fragile X-associated primary ovarian insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
Some gene carriers do not exhibit any of these features. To learn more about carriers click here.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
Since 1984, The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to: 1) supporting and funding all efforts that will increase awareness, 2) improving education, 3) advancing research toward improved treatments and an ultimate cure, and 4) keeping the Fragile X community always well-informed about the progress of these efforts.
I suggest minerals for any problems like this to lessen effects of any disease. http://www.phpure.com/nutrition_products/angstrom_minerals.htm
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If my mother is carrier for fragile x syndrome & my brother does have it does this mean I could be a carrier?
With Fragile X, only ONE parent needs to be a carrier to pass the gene along. Previous respondent - if the mother is a carrier it doesn't matter what's going on with the father. A female has a 50/50 chance, with EACH pregnancy of passing it on. A male, who is a carrier, can only pass the gene on to his daughters and they will be carriers, the gene's cgg repeats won't expand.
I think the your genes, your health website below explains this well. If this is something you are worried about consider being tested, rule it in or rule it out. In my family, my older sister had a full mutation and didn't pass the gene on to her children, my younger sister did not get the mutated gene and I was a carrier, passing the gene on to three of my four children.
Contact me if you like through e-mail listed on my profile page. (
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Fragile X Syndrome Limitations?
My school is doing a project, and one of the questions is What are the limitations of a person with this disease? I really couldn't find any tips on google or bing, or whatever else. So, if you could list some of the "limitations" then that would be great. I know this might be a bit personal if you have experience with Fragile X syndrome, so I just want to let everyone know, I'm not trying to offend anyone. Thanks
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That would be like asking what are the limitations of someone with autism, cancer, MS, etc. The answer is it depends.
One must first understand that like autism, fragile X is a spectrum disorder the symptoms may be none, mild learning disability or severe impairment. Girls because they have a 2nd X chromosome skew the limitations even more, all depends on which X chromosome is active where.
I'm not sure what grade you're in but I've provided some resources below and if you like feel free to connect with me through e-mail. (
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