Fragile+X+Syndrome+PK

__**Fragile X Syndrome by Patricia Kelley**__



Fragile X Syndrome is also known as Martin-Bell Syndrome

__Causes?__
 * Fragile X is caused by a mutation of the FMR1 gene on the X chromosome. This results in halting the production of FMR1 proteins which affects the development of neuronal connections in the brain.
 * Normally, the FMR1 gene contains from 6 to 55 repeats of the CGG codon. People with the mutation have over 230 repeats f the CGG codon.
 * This mutation causes the C chromosome to look "fragile" under the microscope




 * //Symptoms?//**
 * Symptoms vary with each case of Fragile X syndrome - so it is very hard to diagnosis
 * Symptoms are usually more severe within males because they only have one X, while females' symptoms can be less severe because they can have one mutated X and one fully functional X
 * Mental Disabilities: autism, mental retardation, limited speech, hyperactive, hypersensitive
 * Physical Symptoms: large jaw (prognathism), low muscle tone (hypotonia), large ears, long face, flat feet, hollowed chest (pectus excavatum), large testicles (macroorchidism), short tubular hand bones and joint laxity
 * Physical Symptoms: large jaw (prognathism), low muscle tone (hypotonia), large ears, long face, flat feet, hollowed chest (pectus excavatum), large testicles (macroorchidism), short tubular hand bones and joint laxity

//**Transmission?**//
 * Fragile X is an X-linked recessive inheritance.
 * Females carrying one copy of the fragile have a 50% chance of transmitting it to their kids.
 * Fragile X Males cannot transmit it to their daughters, not their sons.
 * The transmission of Fragile X often increases with each generation. This is known as the Sherman paradox.


 * Treatment?**
 * At the moment, there is no cure for the syndrome, but there is research for improved therapy treatments.
 * Current therapies include...
 * special education, medication, behavorial therapy, treatments for abnormalities and genetic counseling

- since the behaviors vary.. it is different for everyone - you have can have strange behaviors, for example clapping when you are happy - you can have trouble making connections with people, for example not being able to make eye contact
 * What is it like to have it?**