Jacobsen Syndrome

BY: Nikolas Monteiro

What is it?

A rare congential disorder

What are symptoms and characteristics of this syndrome?

Affecting a persons mental and physical development

Is it fatal or life threatening?


Do people who have this symptoms early on in life or later on? What age do they show symptoms?

Early on in life

Ages 2.5-26

How does a person get this syndrome ? Is it a mutation or genetically inherited? What does the karyotype look like?

People get Jacobsen Syndrome through reproductive cells

Genetically Inherited

Male 47,XYY

Female 47,XXX

How many people are affected by this syndrome? Is it rare or common?

1 in 100,000 people


Who discovered Jacobsen Syndrome and when was it discovered?

Dr.P Jacobsen in 1973

List any other useful or interesting facts about this syndrome.

* 70-75% of people affected are women

* 25% of affected kids die before they turn two

* 90% of people have a bleeding disorder

Do you think genetic testing is a useful and important for Science? Why or why not?

Yes, genetic research should help because of how the disease is formed. It is a rare syndrome but it kills 25% of the people that get it. Most people that get this or have this need genetic testing to help them. These people who get it are mostly women This syndrome needs to be genetically tested for sure.