Prader Willi Syndrome is caused by a genetic mutation on chromosome 15. Symptoms include rapid weight gain, constant hunger, distinct facial features, learning disabilities, and physical disabilities. While there is no known cure, treatment focuses on special diets, hormone therapy, and psychiatric/medical care to help manage symptoms and quality of life.
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Birth Defects: Introduction to birth defectsPiLNAfrica
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
Infertility is further classified as primary and secondary. If the female below 35 years of age has never conceived even after 5 years of contraceptive free intercourse, or has given birth to a still baby, it is called primary infertility.For more details log on http://www.friscoinfertility.com/
Presentation to American Legion Child Welfare FoundationJonathan Martin
I was invited to speak to the Grants Committee at the American Legion Child Welfare Foundation. The National Marfan Foundation, my former employer, was a frequent recipient of grants, and the purpose of the presentation was two fold: 1) To explain Marfan syndrome, and 2) to share with the group the impact on children and teens who benefit from their funding.
Infertility Treatments In Chennai | Fertility Hospital In IndiaARC Fertility Centre
ARC INTERNATIONAL FERTILITY & RESEARCH CENTRE best Fertility Hospital In Chennai providing all kinds of infertility Treatment In Chennai,India.
For more details visit us @ www.ivf-clinics-india.com
Birth Defects: Introduction to birth defectsPiLNAfrica
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
Infertility is further classified as primary and secondary. If the female below 35 years of age has never conceived even after 5 years of contraceptive free intercourse, or has given birth to a still baby, it is called primary infertility.For more details log on http://www.friscoinfertility.com/
Presentation to American Legion Child Welfare FoundationJonathan Martin
I was invited to speak to the Grants Committee at the American Legion Child Welfare Foundation. The National Marfan Foundation, my former employer, was a frequent recipient of grants, and the purpose of the presentation was two fold: 1) To explain Marfan syndrome, and 2) to share with the group the impact on children and teens who benefit from their funding.
A genetic disorder is a disease caused by a different form of a gene called a variation,
or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some,
including many cancers, are caused by a mutation in a gene or group of genes in a person's
cells. These mutations can occur randomly or because of an environmental exposure such as
cigarette smoke.
Other genetic disorders are inherited. A mutated gene is passed down through a family
and each generation of children can inherit the gene that causes the disease. Still other
genetic disorders are due to problems with the number of packages of genes called
chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.
If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.
NIH: National Human Genome Research Institute
2. -Genetics Return
-The syndrome is caused by the deletion of a gene that
is yet to be identified. Most cases of this gene mutation
Is from the paternal genes, but there are rare cases
where
The maternal gene is mutated.
-Neither mutations are caused by inheritance.
-The gene mutation
has been found in
the chromosome 15
region.
3. -Symptoms
-Rapid weight gain
-Constant hunger
-Distinct facial features
-Learning disabilities
-Physical disabilities
-Slow speech
-Scoliosis
-Poor development
-Delayed hormone growth
Symptoms can cause accidents that may lead to death
4. -Treatment
-Cures
-No cure for Prader Willi Syndrome is known
-Many families have used hormone treatments and special
diets to help people affected by Prader Willi.
Psychiatric help and special cares are available.
5. -Research centers
http://www.medicinenet.com/prader-willi_syndrome/article.htm
http://emedicine.medscape.com/article/947954-overview#showall
Prader Willi Syndrome Association:
http://www.pwsausa.org/syndrome/index.htm
Foundation for Prader Willi research:
http://www.fpwr.org/
6. There is a 1 in 15000 chance of all births to be affected by Prader Willi Syndrome.
The Prader Willi Syndrome can happen to anyone.
The Syndrome is the most common defect in births.
Symptoms have caused death by choking.
Prader Willi lasts a person’s entire life.
Works Cited
Foundation for Prader-Willi Research |. Web. 19 Apr. 2011. <http://www.fpwr.org/>.
"Genetics of PWS." Prader-Willi Association (USA). Web. 19 Apr. 2011.
<http://www.pwsausa.org/syndrome/Genetics_of_PWS.htm>.
“Prader-Willi Syndrome Causes, Signs, Symptoms, Diagnosis, and Treatment Information on
MedicineNet.com." Web. 19 Apr. 2011. <http://www.medicinenet.com/prader-
willi_syndrome/article.htm>.
PWSmom. Web. 19 Apr. 2011. <http://www.pwsmom.com/>.
Staff, Mayo Clinic. "Prader-Willi Syndrome: Treatments and Drugs - MayoClinic.com." Mayo Clinic.
Web. 19 Apr. 2011. <http://www.mayoclinic.com/health/prader-willi-
syndrome/DS00922/DSECTION=treatments-and-drugs>.
