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Warkany Syndrome (Trisomy 8)

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Ashley Roberts

on 10 December 2012

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Transcript of Warkany Syndrome (Trisomy 8)

Research and Studies Prevalence Rate Warkany syndrome is considered to be a rare disease since it affects less than 200,000 people in the U.S. References What is Warkany Syndrome? Warkany syndrome is a genetic disorder caused by an unnatural chromosome division. Diagnosis Characteristics of Warkany Syndrome cannot be found in pregnancy. Symptoms/ Complications Warkany Syndrome will usually cause many physical abnormalities as well as mental disabilities. Most cases dealing with this syndrome are not life-threatening, but those with heart defects will have severe complications. By: Ashley Ngaoka Warkany Syndrome (Trisomy 8) It is commonly known as Mosaic Trisomy 8. A person who has Warkany Syndrome is one who has three copies of the chromosome 8 existing in each cell. There are ways that people can test for Warkany Syndrome which can be done through.....
Blood chromosome testing
Skin biopsies The symptoms are most likely to deal with:
Narrow bone stucture
Malformed ears
Large nose
Curved Spin
Heart defects This syndrome is also known to cause 0.8% of infant deaths. Warkany syndrome even has a frequency of 1 to 25,000 and 1 to 50,000 births and is mainly seen in male babies. Treatment No cure for Warkany Syndrome has been discovered, but there are a few ways to treat some of the disabilities. Many of the physical flaws from Warkany syndrome can be restructured through surgery or like:
Cleft Palate
Undescended Testicles Other characteristics of Warkany Syndrome cause no potential harm to the body at all such as:
Facial features
Skin Tissue
Change in bone structure Vuong, L. (2011, October 26). Estybon may be effective as salvage therapy for higher-risk mds patients and patients with trisomy 8. The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2011/10/26/estybon-rigosertib-may-be-effective-as-salvage-therapy-for-higher-risk-mds-patients-and-patients-with-trisomy-8/.
Signs of trisomy 8 mosaicism. (2012., Nov. 06) Retrieved from http://www.rightdiagnosis.com/t/trisomy_8_mosaicism/signs.htm.
Trisomy 8 mosaicism syndrome. (n.d.). Retrieved from http://www.healthline.com/galecontent/trisomy-8-mosaicism-syndrome.
Trisomy 8. (n.d). Retrived from http://diseasedisease.com/Syndrome/Trisomy-8.html.
Vuong, L. (2012, September, 04). Vidaza may help certain lower-risk mds patients transfusion independence (eha 2012) The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2012/09/04/vidaza-azaciticline-lower-risk-mds-transfusion-eha-2012/.
Haehle, M. (2012, November 07). Potential new mds treatments: What is on the horizon?. The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2012/11/07/new-mds-myelodysplastic-syndromes-treatments/.
J3, L. (2012, Feburary 14). Oral estybon shows activity in myelodysplastic syndromes (ash 2011). The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2012/02/14/oral-estybon-rigosertib-shows-activity-in-myelodysplastic-syndromes-ash-2011/. The research involved MDS Trisomy 8 patients to incorperate Vidaza and Estybon in their transfusion cycles. The purpose for Vidaza was to complete their blood transfusion and Estybon to stablalize the amount of mutated Trisomy 8 blood cells. Most people suspect that their child has warkany syndrome because the child born has rare characteristics like:
Uneven leg lenghts
Curved backbone
Deep creases in the feet and hands
Vidaza and Estybon are similar drugs as they both can be used to prevent cell growth and kill cancerous cells. The only difference is that Estybon is an experimental drug. In the Vidaza study twenty-nine cases were reported with serious side effects from sixteen patients who had infection. With the Estybon study two out of the six patients managed a stable Trisomy 8 blood count. The rest of the four patients had serious side effects such as:
Painful urination
fatigue and nosebleeds
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