Details of a Genetic Counselor

The minimal degree for a genetic counselor is a masters degree.  A person should study biology, chemistry, algebra, geometry, calculus, English, foreign language, sociology if they want to become a genetic counselor.  The job growth of genetic counselors is rising from 14 to 20%.  Genetic counselors usually make around $60,000 annually.

Science Careers: Genetic Counselor." Science Fair Project Ideas, Answers, & Tools. Web. 12 Mar. 2011. <http://www.sciencebuddies.org/science-fair-projects/science-engineering-careers/Genom_geneticcounselor_c001.shtml>.

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

A person can either inherit this disorder from their parents or have a mutation.  Marfan Syndrome is autosomal dominant meaning that if one parent has the disease than there is a high possibility of the child being affected. Marfan Syndrome is also chromosomal, the 15th chromosome is the one affected.




"Inheritance and Genetics of Marfan Syndrome - WrongDiagnosis.com." Wrong Diagnosis. Web. 12 Mar. 2011. <http://www.wrongdiagnosis.com/m/marfan_syndrome/inherit.htm>.

Chromosomal mutation of a Marfan Syndrome patient

25% of affected individuals are affected by a new mutation, the other 75% get the mutated gene from their parents.  This mutation is a mutation in the fibrillin-1 gene located on chromosome 15.  This gene encodes for the glycoprotein fibrillin, a major building block for microfibrils, which serves as a substrate for elastin in the aorta and other connective tissues.  Deficient fibrillin causes reduced structural integrity of the ligaments, spinal dura, lung airways and dilation of the aorta.



Chen, Harold. "Genetics of Marfan Syndrome." Emedicine. Web. 12 Mar. 2011. <http://emedicine.medscape.com/article/946315-overview>.

How prevalent is Marfan Syndrome in the population

About every one in ten-thousand persons in the world have Marfan Syndrome.  It is one of the most common single gene malformation syndrome.  There are a few famous people with Marfan Syndrome including Abraham Lincoln and Mary Queen of Scots.



Chen, Harold. "Genetics of Marfan Syndrome." Emedicine. Web. 12 Mar. 2011. <http://emedicine.medscape.com/article/946315-overview>.

The chances of a person with this disease passing the disease to their child

If you are affected with Marfan Syndrome you have a 50% chance of passing the affected trait to your children.  Meaning if Mike is affected with Marfan Syndrome than his son, Will, has a 50% chance of getting Marfan Syndrome.  Women and men are affected alike, this trait is not x-linked.



"Marfan Syndrome Causes, Fibrillin Protein." National Heart, Lung and Blood Institute. Web. 12 Mar. 2011. <http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_causes.html>.

"Marfan Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 12 Mar. 2011. <http://kidshealth.org/kid/health_problems/birth_defect/marfan.html#>.

How Marfan Syndrome is diagnosed

Marfan Syndrome is diagnosed by many doctors because it affects many parts of the body, a geneticist (gene doctor), a cardiologist (heart doctor), ophthalmologist (eye doctor), and an orthopedist (bone doctor).  The geneticist looks to see if there has been any family history of Marfan Syndrome, because this disorder is inherited.  A cardiologist will see if the patient has any heart problems, one of the main affects of Marfan Syndrome is dilation of the aorta (part of the heart).  The ophthalmologist will then check for any lens dilations and any other abnormalities.  The orthopedist will check for curves in the spine, indentions of the chest, joint problems and flat feet.  Diagnosing for Marfan Syndrome is very strict, most of the affects can be found in many people.  If the person has a family history and has many of the symptoms they will be diagnosed.



"Marfan Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 12 Mar. 2011. <http://kidshealth.org/parent/general/eyes/marfan.html#>.

Physical Symptoms of Marfan Syndrome

The major symptoms of Marfan Syndrome include the person having a tall, thin build, long arms, legs, fingers, toes and flexible joints, scoliosis (curving of the spine), pectus excavatum (sinking chest), pectus carinatum (rising chest), crowded teeth, and flat teeth.



"Scoliosis, Pectus Excavatum, Pectus Carinatum, Crowded Teeth, Flat Feet." National Heart, Lung and Blood Institute. Web. 12 Mar. 2011. <http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_signsandsymptoms.html>.