Genetic and Pediatric Diseases Practice Questions
20 free Genetic and Pediatric Diseases practice questions for the USMLE Step 1, each with the correct answer and a detailed explanation. Open any question below, or take the full set as an interactive quiz.
Questions
20 questions
All Genetic and Pediatric Diseases questions
- Q1. Which of the following is the genetic basis of Down syndrome (most common form)?
- Q2. Which of these is a classic clinical feature commonly seen in Down syndrome patients?
- Q3. Cystic fibrosis (CF) is inherited by which pattern, and what is the primary defect in CF?
- Q4. Which organ systems are most characteristically affected in cystic fibrosis, leading to chronic clinical problems?
- Q5. Sickle cell disease (SCD) is caused by a mutation in which gene product, and what is the primary pathologic change in red blood cells?
- Q6. Which of the following genetic disorders often leads to progressive neurodegeneration in infancy or early childhood due to enzyme deficiency in the central ner…
- Q7. Which syndrome is caused by the complete or partial loss of one X chromosome in a genetically female individual and often results in short stature, infertility…
- Q8. Which of the following best describes the inheritance pattern of most classical inborn errors like cystic fibrosis, sickle cell disease, and Tay–Sachs disease?
- Q9. Marfan syndrome commonly results from mutations in the FBN1 gene. Which tissue abnormality primarily accounts for its characteristic aortic aneurysm risk?
- Q10. Which of the following genetic diseases arises from genomic imprinting or uniparental disomy rather than simple gene mutation or chromosome number change?
- Q11. Which pediatric genetic condition is most likely when a newborn has exocrine pancreatic insufficiency plus bone marrow dysfunction and short stature (but not c…
- Q12. Which of the following statements about chromosomal disorders is TRUE?
- Q13. In a pedigree showing an X-linked recessive disease such as Duchenne muscular dystrophy, which parent transmits the defective gene to an affected male child?
- Q14. Which metabolic pediatric disease results from inability to degrade an amino acid, leading to intellectual disability unless detected by newborn screening and…
- Q15. Which genetic condition tends to have more severe expression of disease in males because of having only one X chromosome?
- Q16. A newborn male baby presents with micrognathia, downward slanting palpebral fissures, malformed ears and cleft palate, but normal intelligence. Which disorder…
- Q17. Which of the following is a common complication in children with Down syndrome that warrants early cardiac evaluation?
- Q18. Which feature differentiates a chromosomal disorder from a single-gene disorder in genetic disease classification?
- Q19. Which of the following syndromes is an example of a non-Mendelian, imprinting or uniparental disomy disorder rather than classic autosomal or chromosomal abnor…
- Q20. Which pediatric genetic disease is characterized by progressive destruction of motor neurons leading to muscle weakness, often inherited in an X-linked pattern?