Which of the following options best describes the red flags…

Which of the following options best describes the red flags that are present in the scenario illustrated in the pedigree, suggesting that the disorder segregating in this family is genetic?    Multiple affected family members Disease in the absence of risk factors Disease in the less often affected sex Ethnicity A) Yes No Yes No B) No Yes Yes Yes C) Yes Yes No Yes D) Yes Yes Yes No E) Yes No Yes Yes

Which of the following mutational mechanisms is the most lik…

Which of the following mutational mechanisms is the most likely cause of a 46,XX individual presenting as a normal male at birth, and small testes, gynecomastia, normal external male genitalia and normal male pubic hair distribution at puberty? A SRY translocation from Y to X B SOX3 duplication C Loss of function variant in NR5A1 D Gain of function variant in SOX9