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What important genetic characteristic does Marfan syndrome have?
Another important genetic characteristic of Marfan syndrome is variable expression.
Is marfan syndrome genetic?
yes
When can you get marfan syndrome?
Anyone can get Marfans syndrome, it is a genetic disorder.
A diagnosis of Marfan syndrome is made through what process?
A diagnosis of Marfan syndrome is typically made through a physical exam, family history assessment, and genetic testing. The diagnostic process may also involve imaging tests such as echocardiography and eye examinations to check for Marfan-related complications. Consulting with a medical geneticist or specialist experienced in diagnosing Marfan syndrome is important for accurate diagnosis and management.
What is a Marfan Syndrome?
marfan syndrome is genetic disorder of connective tissue of the body. it cause a mutation of the gene that produces the protein fibrillin.
Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?
The FBNI gene encodes for a protein called fibrillin-1, mutations of which are associated with Marfan syndrome. However, there are other genes also implicated in Marfan syndrome. Therefore, diagnosing Marfan syndrome solely based on FBNI gene mutations may not capture the full spectrum of genetic variations that can cause the condition. A comprehensive genetic testing panel is usually needed for an accurate diagnosis.
When was the mutation responsible for Marfan syndrome discovered?
The genetic mutation responsible for Marfan was discovered in 1991.
Why is it sometimes impossible to make a conclusive diagnosis of Marfan syndrome?
The diagnosis remains uncertain because of the mildness of the patient's symptoms, the absence of a family history of the syndrome, and other variables. These borderline conditions are sometimes referred to as marfanoid syndromes.
How common is marfan syndrome?
Marfan's syndrome is the most common genetic disorder of connective tissue. It occurs in about every 10,000 to 20,000 individuals.
What has the author O V Lisichenko written?
O. V. Lisichenko has written: 'Sindrom Marfana' -- subject(s): Genetic aspects, Genetic aspects of Marfan syndrome, Marfan syndrome
What is marfansyndrome?
Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers.
Is gene therapy a possiblilty for marfan's syndrome?
Gene therapy is being explored as a potential treatment for Marfan syndrome, as it has the potential to correct the underlying genetic mutation that causes the condition. However, further research is needed to determine its safety and efficacy before it can become a standard treatment option for Marfan syndrome.
