HY USMLE Q #1398 – Genetics

A 6-month-old boy is brought to the pediatrician by his mother for a follow-up appointment. He has a 1-month history of progressively worsening aggressive behavior. One week ago, he rubbed his lips and nose violently on a carpet, causing serious abrasions. His mother says that there has also been an orange crystalline appearance to his stools for the past month. The inheritance pattern of this patient’s condition is most similar to which of the following?

A) Ataxia-telangiectasia
B) Cystic fibrosis
C) Hereditary hemorrhagic telangiectasia
D) Pyruvate kinase deficiency
E) Sideroblastic anemia