Hereditary and Congenital Disease page 5

Inborn Errors of Metabolism, Down's Syndrome, Cri Du Chat, etc.

• 1. What are the three categories of hereditary diseases? Describe each.


• 2. Why are Mendelian disorders often called inborn errors of metabolism?


• 3. What are some ways in which chromosomal diseases can occur?


• 4. Recognize the pattern of transmission from a detailed family tree (i.e., autosomal dominant, autosomal recessive, X-linked etc.).


• 5. Predict the likelihood of recurrence in another offspring in diseases with the transmission of inheritance as evident in the family tree.


• 6. Describe the pathogenesis of phenylketonuria, and its mode of transmission.


• 7. Describe how inborn errors of metabolism affect substrate fate


• 8. Why are autosomal trisomies usually always incompatible with life?


• 9. Describe how the individualiazation (visualization) of the chromosome was achieved.


• 10. What are some diseases diagnosed by cytogenetics?


• 11. Define translocation and explain its role in Down’s syndrome and Cri du Chat.


• 12. What is karyotyping?


• 13. Provide a description of the effects of Klinefelter’s Syndrome.


• 14. What is the Lyon hypothesis?


• 15. Describe the ‘ethical issues’ of genetic testing.


• 16. Define mosaicism.