Fragile X Syndrome

Julia Bauer


Fragile X syndrome is a genetic disorder that occurs on the X chromosome. This disease happens at an early stage either in the mothers womb or even after they are born. This disease is a form of mental and physical problems. Children most affected are males because they only have one X chromosome, but females can have the same fate. This trait is passed down by carriers who have permutation, this is because any child who ends up with this disease had a mutation formed within them causing Fragile X syndrome to take place within their bodies.


Define Fragile X Syndrome: This disease can form in the mothers womb or even at a young age(when it's noticed), it occurs on the X chromosome and makes it very difficult to learn,communicate, and connect with a persons surroundings. A term often used as Mental Retardation.

Symptoms and Treatments

Symptoms of the Fragile X syndrome:

* Mental retardation

* Lack of attention/ active when young

* Communication lacks

* Usually emotionally unstable

Physical characteristics:

* Narrow faces

* Big heads

* Large ears

* This disease sometimes is linked to a form of Autism


* NO Treatments or cures found

* Therapy is available

* Medication for relaxation

* Special Education is also an available option

* Setting routines help take off edge

Research and Heredity

Passing down Fragile X:

* Fragile X syndrome occurs only on the X chromosome

* Males usually have it worse than females because they only have one X, females have 2

*Permutation within the mother or father has the risk of passing down the trait

*Permutation is when you lack protein: A child with the disease has CGG sequence that has to many or not enough amino acids

*The dominant trait passes it down

* Females who give off trait to their daughters are not as effected because the male gives off an X balancing the syndrome out with symptoms. This also applies to the males if they carry the mutation, but the female balances out. If they both carry the mutation then it can result in a brain damaged daughter.

* Males can not give the trait to their son's because they give off a y chromosome. Females are the only one who could pass it down to their son's. Since another X chromosome does not balance out within the boys, they usually have brain damage that is more common, but sometimes males don't have brain damage.

* Research for medication is being experimented on to help a certain part of the brain.


“Fragile X Syndrome.” Genetics Home Reference. U.S National Lib of Medicince, Apr. 2012. Web. 5 Apr. 2016. <>.

Fundukian, Laurie J. “Fragile X Syndrome.” The Gale Encyclopedia of Genetic Disorders. 2010. Gale Virtual Reference Library. Web. 4 Apr. 2016.

“Learning about Fragile X Syndrome.” National Human Genome Research Institute. NIH, 27 Dec. 2013. Web. 5 Apr. 2016. <>.

Fair Use Statement

This presentation contains copyrighted material under the educational fair use exemption to the U.S. copyright law. It has been prepared according to the multimedia fair use guidelines and is restricted from further use.