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Transcript of Marfan Syndrome
by sydney hodgson
~long arms, legs, and fingers
~tall and thin body type
~chest sinks in or sticks out
stretch marks unrelated to weight loss or gain
~heart problems especially related to the aorta
who is affected
about 1 in 5,000 people have this genetic disorder. 75 percent of people who have this disorder inherited it genetically. Some people, however, are the first in their family to have it. When this happens it is called a spontaneous mutation.
Marfan syndrome is caused by a mutation in the gene that makes fibrillin1. The mutation causes an increase in a protein called Transforming Growth Factor Beta (TGF-B). It causes problems in connective tissues, creating the features and medical problems that go alongside with Marfan syndrome.
Two possible tests can be used for pregnant women with Marfan Syndrome. One is chorionic vilks sampling, and the other is amniocentesis
did you get that?
- the main artery of the body, supplying oxygenated blood to the circulatory system. In humans it passes over the heart from the left ventricle and runs down the front of the backbone
did you get that?
Chorionic vilks sampling
- involves removing and testing a small sample of cells from the placenta in pregnant women to see if the child has a genetic disorder
- the sampling of amniotic fluid using a hollow needle inserted into the uterus to screen for developmental abnormalities in a fetus
how it's inherited
When inherited from parents, this disorder is autosomal dominant.
pertaining to a chromosome that is not a sex chromosome
In certain major cases of this syndrome, it could be fatal if it's not recognized and treated early.
There are different treatments for the separate symptoms of Marfan syndrome. For exaple for poor vision, one can get glasses, and in some cases, surgery. Patients with Marfan are typically treated by a multidisciplinary medical team. Dependng on how bad a patient's heart problems are, that can sometimes be treated.
here is an example of someone with Marfan syndrome
tall and thin
A person with Marfan Syndrome is able to have children, but there will be a 50 percent chance that their child will have it
The Marfan Foundation. Marfan.org. March 2016.
National Human Genome Research Institute. genome.gov. April 21,2016. March 2016.
Lister Hill National Center for Biomedical Communications. nih.gov. US national liberty medicine, March 28, 2016. March 2016.
NHS Choices. nhs.uk. March 10, 2016. March 2016.