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The "autosomal dominant" method of inheritance. if your question as Marfan syndrome is the result of inheriting a single allele. Individuals with Marfan syndrome are tall and long-limbed, and have both cardiovascular and eye defects. The inheritance of Marfan syndrome is an example of ______. then the answer is pleiotropy
Marfan syndrome is an inherited disorder that is typically passed down from one generation to the next through an autosomal dominant pattern of inheritance. This means that if one parent carries the Marfan syndrome gene, there is a 50% chance that they will pass it on to each of their children. In some cases, Marfan syndrome may also occur as a result of a spontaneous genetic mutation.
Marfan is an autosomal dominant disorder, which means that if someone inherits a defected gene from either parent, he will have Marfan syndrome. 75% of people with Marfan got it from their parents; the other 25% were the result of random mutations that happened in the first days or weeks of the pregnancy. This syndrome is caused by a mutation in the FBN1 gene on chromosome 15, which is necessary for structural and maintenance of elastic, connective tissue fibers. Everyone has this gene in them. There are over 600 different mutations on FBN1 that can cause Marfan. FBN1 mutations can also result in other disorders as well, like ectopia lentis and MASS Phenotype.
Marfan syndrome can result in sudden death due to increased risk for aortic dissection or aneurysm when undiagnosed or untreated. If diagnosed and managed early, patients can have a normal life expectancy.
As a result, the patient may develop various deformities of the skeleton or disorders related to the relative looseness of the ligaments.
carpel tunnel syndrome
No. Down Syndrome is caused by polyploidy of 21st chromosome (trisomy-2n+1 condition).
Can you explain how it is also present in about 11% of patients with Marfan syndrome?
AIDS is more accurately called a syndrome. It is a condition and a disease, but not in the usual sense because a disease usually has one cause. AIDS is more of a complex situation as a result of the disease of having HIV infection.
Having an extra copy of chromosome 21. You are supposed to have 2; when you have 3 (trisomy 21), Down's Syndrome is the result.
Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Most people with Marfan syndrome have problems associated with the heart and blood vessels. Because of faulty connective tissue, the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) may be weakened and stretch, a process called aortic dilatation. Aortic dilatation increases the risk that the aorta will tear or rupture, causing serious heart problems or sometimes sudden death. Sometimes, defects in heart valves can also cause problems. In some cases, certain valves may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not result in any symptoms, but larger ones may cause shortness of breath, fatigue, and palpitations (a very fast or irregular heart rate).
Trisomy 21 (Down's syndrome), Turner's syndrome (XO), and Klinefelter's syndrome (XXY) are a few examples of genetic disorders that can result when chromosomes don't separate correctly during meiosis.