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TODAY’S TEST QUESTION:
CORRECT ANSWER:
đź”´ANSWER: D
D) A person with Marfan syndrome has a 20% chance of passing it on to their child. (this is not a correct statement)
Correct statement: A person with Marfan syndrome actually has a 50% chance of passing it on to their child.
“Marfan syndrome occurs in one of 5,000 live births. It is a connective tissue disorder associated with autosomal dominant inheritance. Connective tissue is abundant in the body and is important as a supporting structure. It is especially important for the musculoskeletal system. It also provides support for other body systems as well, including the eyes and the heart. The gene for Marfan syndrome is called fibrillin-1. This gene is localized to chromosome #15 on the long arm (q) at 15q21.1.”(3)
OTHER ANSWERS:
- A) About 70% of people with Marfan syndrome have restrictive lung disease. (this is a correct statement)
- “About 70% of people with Marfan syndrome also have restrictive lung disease. Restrictive lung disease does not allow the chest to expand fully. When the lung cannot expand fully, there is a decreased ability to expand the lung (breathe in), which makes it difficult for the body to take in the amount of oxygen that the body needs.”(2)
- B) It’s caused by a mutation in a gene called FBN1 (this is a correct statement).“Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue”(1)
- C) Crowded/crooked teeth is a common finding
References
1) https://www.cdc.gov/heartdisease/marfan_syndrome.htm
2) https://www.marfan.org/about/body-systems/lungs
3) https://www.stanfordchildrens.org/en/topic/default?id=autosomal-dominant-marfan-syndrome-90-P02112
4) Picture: Aurora Bakalli, Tefik Bekteshi, Merita Basha, Afrim Gashi, Afërdita Bakalli and Petrit Ademaj
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