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Information About The Disorder *Fragile X Syndrome is when your X chromosome is partially damaged or contains a gap, at the "long arm of the X chromosome." Fragile X males who carry the disease, but are not affected by it can pass the fragile X chromosome to their female offspring. *It is a genetically inherited disease. *Children diagnosed at birth with fragile X syndrome appear normal at their infant stages but then features develop "during their lifetime." *Fragile X syndrome is not the "reuslt of a single change in base" but is a "trinucleotide repeat disorder." It is described as this because there isn't just one single error in the code, there are many, and the "multiplication of part of the genetic information." *The FMR1 gene containing three nitrogen bases (cytosine, guanine, and guanine again) are repeated in the CGG order 30 times, a pre-mutation would have 50-200 repeats and a mutation would ahve 200-800 CGG repears.
Fragile X Syndrome
Symptoms *Severe mental retardation *Large ears *Large testes *Large jaw *Speeech delays *Large Forehead *Double Jointedness *Seizures *Speech and Language difficulty *Girls who are diagnosed with this disease are shy and stay are from people, and have toruble with math.
Possible and Existing Treatments -There are not any definite treatements fro fragile X syndrome, but there are many ways to decrease the symtoms of the condition. -Such as physical therapy and medication. -Fragile X syndrome children, usually learn slower than others so parents can sign their children up for individualized education plan (IEP) which helps children with learning, and where "development specialists" who work with the child.
Probability of Inheritance -A duaghter that inherits the gene is a carrier that still has a chance of acquring all the facial features and symptoms . -A son with fragile x syndrome, that inheirts the gene has a "80 percent likelihood of developing fragile x syndrome." -Fragile x syndrome is transmitted from the parent to the children, passed by genetic information or DNA, that is "present" in the sperm and egg cells,. -A father with a "altered X chromosome" can only pass the disease to his daughters, and passes they Y chromosome to his sons, but that shows no effect, because the Y chromosome is not affected. -If the father has an altered gene (X chromosome) and the mother does not have an altered X chromosome then the female offspring will have the disease. -But if the mother has a fragile x chromosome bot hthe boy and girl have a 50-50 chance of inheriting the disease.
Quality Life of Patients with this disorder -They have low IQ's (20-80) -Slow Learners -Speech difficulty -Lack of eye contact -Hand biting -They have low concentration, and usually don't pay attention.
Breakthroughs Being Sougth *Just recently, 2009, a neurologist, Mark Bear was studying the brain. His teamates and Mr. Bear discovered that they could "connet fragile X by bringing the system back into normal balance." They used mice to test their theory if reducing the mGLuR5 (metabotrophic glulamate receptor 5) that accelarates protein synthesis." This process helped the animals develop memory their brain, "respond to normal body growth, and reduced seizures."
Bibiliogrpahy -http://www.healthscout.com/ency/68/599/main.html http://www.childdevelopmentinfo.com/disorders/facts_about_fragile_x_syndrome.htm http://www.medicinenet.com/fragile_x_syndrome/page15.htm http://spectrum.mit.edu/issue/2009-fall/fragile-x-breakthrough/
