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Which one of the following symbols and its representation, used in human pedigree analysis is correct?

1. □ = mating between relatives
2. ○ = unaffected male
3. □ = unaffected female
4. ◆ = male affected

Correct answer: ◆ = male affected

Solution

In human pedigree analysis, a square represents a male and a circle represents a female; shading indicates affected status. A diamond is used when sex is unspecified, so the correct pairing is not a square or circle but the symbol given for an affected male in the options.

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