Which one of the following symbols and its representation, used in human pedigree analysis is correct?
= male affected
= mating between relatives
= unaffected male
= unaffected female
In human genealogical analyses, fully shaded symbols represent affected individuals, while semi-shaded symbols represent carriers. The squares represent men and the circles represent women. Unidentified genders are represented by diamonds. Thus, option A represents an unaffected female, while option B represents an unaffected male; option C represents an assigned unknown gender, but not an assigned male. Mating between family members, symbolized by two horizontal lines connecting the circle and the square; Hence, option 2 is correct.