Consider the family pedigree below, in which a monogenic autosomal congenital abnormality is denoted by shaded squares/circles. Based on the pedigree shown, what term best describes the abnormality?

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Let's restate the problem to ensure clarity: a family pedigree shows a monogenic autosomal congenital abnormality denoted by shaded individuals, and you are asked which term best describes the abnormality.

Option a: Pleiotropic. This would mean a single gene affecting multiple, seemingly unrelated traits. While pleiotropy is common in genetics, the question emphasizes inheritance pattern across the pedigree (vertical transmission through generations) rather than the breadth of traits affected. Therefore, pleiotropy is not the best descriptor for an autosomal congenital disorder based on family pattern alone.

Option b: Y chromosome-linked. Traits on the Y chromosome affect only males and are passed from father to son. If the pedigree shows affected individuals of both sexes across generations, including females, this option would be inconsistent. Since the problem states an autosomal abnormality, Y-linked inheritance is unlikely.

Option c: Recessive. Recessive conditions typically appear in siblings but may skip generations, especially if carriers are asymptomatic. If the pedigree shows affected individuals in multiple generations with both sexes affected and no skipping pattern, a recessive description would be misleading. However, without seeing the exact generation-to-generation pattern, this remains less likely given the prompt highlights an autosomal congenital abnormality.

Option d: Dominant. An autosomal dominant condition tends to appear in every generation and affects both males and females equally. A single mutated allele is sufficient to express the phenotype, leading to vertical transmission from affected parents to offspring. If the pedigree demonstrates affected individuals across successive generations and across sexes, this description fits well with an autosomal dominant pattern.

In summary, among the listed terms, dominant accurately describes an autosomal congenital abnormality that shows transmission across generations and affects both sexes, aligning with the typical pedigree expectations for autosomal dominant conditions. The other choices conflict with the observed inheritance pattern or chromosomal location implied by the pedigree scenario.

DEV3011 S1 2025 TEST 2 (EOS exam)

Consider the family pedigree below, in which a monogenic autosomal congenital abnormality is denoted by shaded squares/circles. Based on the pedigree shown, what term best describes the abnormality?

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