Fragile X Syndrome

Fragile X Syndrome By Ryan Hong 10L1

This disorder is also known as the Martin bell syndrome, marker X syndrome and FRAXA syndrome. This syndrome is caused by the random mutation of the FMR-1 gene which is found on the X chromosome.

Fragile-X-syndrome affects people of all ethnic groups. 1 in 4000-6250 male and 1 in 7000-8000 female has this disorder, and people have a 50% of inheriting this disorder. This gene is inherited in an X-linked dominate pattern.

Young people with this disease often experience ear and sinus infections, nearsightedness and lazy eye. Babies also have trouble sucking and undergo digestive disorders that can cause frequent vomiting. Some kids may also experience seizures and have loose joints.

A test can be done to determine whether someone has this disorder or not. A blood sample will be taken and analysed to determine what form of the FMR-1 gene is present.

Fragile-X-syndrome won't effect ones life span, but they will have intellectual disabilities, so someone with this disease will live a very hard life, as it will be hard for them to communicate and move freely.

There is no specific treatment to cure fragile-X-syndrome but appropriate education and therapy may help one to strengthen their intellect and learning abilities.

Bibliography

Information

Are There Treatments for Fragile X Syndrome? • Fragile X Research - FRAXA Research Foundation. (n.d.). Retrieved from https://www.fraxa.org/fragile-x-syndrome/treatment/

Boyden, K., Olendorf, D., Jeryan, C., & Gale Research Company. (2006). The Gale encyclopedia of medicine (9th ed.). (Gale Encyclopedia of Medicine.) Detroit, MI: Gale Research.

Your Genes, Your Health. (n.d.). Retrieved from http://www.ygyh.org

What is Fragile X Syndrome? | Fragile X Association of Australia. (n.d.). Retrieved from https://fragilex.org.au/what-is-fragile-x/

Welcome — Centre for Genetics Education. (n.d.). Retrieved from http://www.genetics.edu.au

What is Fragile X Syndrome? | Fragile X Association of Australia. (n.d.). Retrieved from https://fragilex.org.au/what-is-fragile-x/

Images

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http://www.cdc.gov/ncbddd/fxs/facts.html

http://www.fragilexfiles.com/p/fragile-x-syndrome-is-condition-in.html

Video

https://m.youtube.com/watch?v=tCHA6qCUAek

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Credits:

Created with images by quapan - "Spermatozoon (disc shaped head 5.1 µm by 3.1 µm and a tail 50 µm long)" • damirbelavic - "search math x" • quapan - "Human gametes: ovum & spermatozoon. Approximately 50% of the floating sperms contain the y-chromosome (--> fertilization leads to a male ♂ child), the other 50% encompass the x-chromosome (--> conception pruduces a female ♀ child)" • Alexas_Fotos - "danbo figure separated" • Ruth and Dave - "Vomiting pumpkin" • qimono - "blood cells red" • webandi - "candle light candlelight" • Myriams-Fotos - "syringe disposable syringe needle"

Fragile X Syndrome By Ryan Hong 10L1

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