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1 vote
A pre-employment physical indicates that a patient likely has Marfan syndrome. The least likely explanation for this is:

a) Spontaneous mutation
b) Inheritance from a distant relative
c) Incomplete penetrance
d) Mosaicism

1 Answer

3 votes

Final answer:

Mosaicism is the least likely explanation for a patient likely having Marfan syndrome, as Marfan is typically inherited in an autosomal dominant pattern, where symptoms occur with just one mutated gene. Spontaneous mutation, inheritance from a distant relative, or incomplete penetrance are more plausible explanations.

Step-by-step explanation:

The least likely explanation for a patient likely having Marfan syndrome following a pre-employment physical is (d) Mosaicism. Marfan syndrome is inherited in an autosomal dominant pattern, meaning that an individual with a mutation in the gene responsible for Marfan syndrome will exhibit symptoms even if they have only one copy of the mutated gene. Among the options provided:

  • Spontaneous mutation: This can occur and cause Marfan syndrome even without a family history.
  • Inheritance from a distant relative: While possible, Marfan syndrome could be traced back to a distant relative who carries the gene.
  • Incomplete penetrance: Sometimes individuals who carry an autosomal dominant gene might not show symptoms, which is known as incomplete penetrance.
  • Mosaicism: This involves an individual having two or more populations of cells with different genotypes in their body, which is less likely to lead to a diagnosis of Marfan syndrome.

Therefore, mosaicism is the least likely explanation for the presence of symptoms consistent with Marfan syndrome in the patient described.

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User Luzny
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