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Prader Willi Syndrome Diagnosis & Treatments. Rep. Web. 13 Mar. 2011. <http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments>.

 

"Prader Willi Syndrome Coping and Support." Mayo Clinic. Mayo Clinic Staff. Web. 13 Mar. 2011. <http://www.mayoclinic.com/health/prader-willi-syndrome/DS00922/DSECTION=coping-and-support>.

 

"Links and Resources." Prader-Willi Research Association. Web. 13 Mar. 2011.

 

"Prader Willi Syndrome Support Group." Daily Strength. Web. 13 Mar. 2011.

 

"Support." Prader-Willi Syndrome Association. Web. 13 Mar. 2011.

 

"Adults with Prader-Willi Syndrome and Decisions Regarding Least Restrictive Environment and Right to Eat." Prader-Willi Syndrome Association. Web. 13 Mar. 2011.

 

"Basic Facts About PWS:." Prader-Willi Syndrome Association. Web. 13 Mar. 2011.

 

"Prader-Willi Syndrome." Editorial. New York Times. Web. 13 Mar. 2011.

 

"Tests and Diagnosis." Mayo Clinic. Web. 13 Mar. 2011.

 

"Genetic Counseling." Human Genome Project Information. Web. 13 Mar. 2011.

 

 

 

 

 

 

 

 

What is a genetic counselor?

 Genetic counselors are health professionals that provide help and support to families with a member that has a birth defect or genetic disorder. They also analyze inheritance patterns of a disease in a family, and review options for the family. In order to be a genetic counselor, you need specialized  graduate degree, and experience in medical genetics and counseling.

How does a person inherit this disease?

PWS is a chromosomal abnormality. On chromosome 15, the paternal half is absent.

Describe abnormality:

About 70% of cases come from a non inherited deletion in the paternally contributed portion of chromosome 15.
About 25% have two maternal chromosome 15s and no paternal chromosome 15.
2-5% derived from an error imprinting, which results in the paternal contribution being dysfunctional.

How prevalent is this disease in the population?

In both sexes and all races, the prevalence is 1 in 12,000-15,000.

What are the chances of a person with this disease passing it onto their offspring?

Since about 70% of cases are from a non inherited deletion in the paternally contributed chromsome 15, there is not a good chance the offspring will inherit the disease.

how is the disease daignosed?

There may be signs of the disease at birth. Newborns will be floppy and small. Labratory tests will be done to give a definite diagnosis.