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Prader Willi Syndrome

Prader Willi Syndrome. Chromosomal location. The chromosome that is affected by this disease is the 15 th chromosome. DNA Mutation. The three DNA mutations that can cause this to happen are: Deletion, maternal disomy, and imprinting defect.

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Prader Willi Syndrome

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  1. Prader Willi Syndrome

  2. Chromosomal location The chromosome that is affected by this disease is the 15th chromosome.

  3. DNA Mutation The three DNA mutations that can cause this to happen are: Deletion, maternal disomy, and imprinting defect. Caused by a loss of genes in the 15th chromosome.

  4. The genes inheritance trait The prader willisyndrome does not usually get inherited because it is random.

  5. Higher incidence It affects every 12,000-15,000 people of both sex and all races.

  6. Symptoms of disease • Newborns are usually small and floppy • Trouble eating as an infant, with poor weight gain • Almond-shaped eyes • Rapid weight gain • Short stature • Slow mental development • Very small hands and feet in comparison to the child's body

  7. How diagnosed PWS is diagnosed with a blood test that looks for the genetic abnormalities that are specific to PWS - called a "methylation analysis."  Themethylation test will identify all types of PWS and is the preferred test for diagnosis.

  8. Treatment This syndrome mainly causes obesity, so a way to treat is to work together with your community to watch the calorie intake. The syndrome also causes low sex hormones that are necessary, but puberty may help with this. But there are some growth hormones that you can take that will make the improvements faster.

  9. Life expectancy With the right education for his or her IQ level, speech, physical, and occupational therapy, and Controlling weight will allow for a much longer and comfortable healthy life.

  10. Genetic Test Prader Willi syndrome can not be tested because it occurs randomly. But it can reoccur within the family.

  11. Prader Willi Syndrome

  12. Sources Zieve, D. (2012). U.s. national library of medicine. In A.D.A.M. Medical Encyclopedia. Retrieved from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002572/ Prader-Willi Association. (2004, May 04). Genetics- chromosome 15. Retrieved from http://www.pwsausa.org/syndrome/genetics__chromosome_15.htm Foundation for prader-willi research. (2012). Retrieved from http://fpwr.org/about-prader-willi-syndrome

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