Study Guide for dental students and dentists

This is a comprehensive study guide for dental students and dentists. On this site you will Histology of the Human Eye for UCLA Dental Students. In addition there is a comprehensive study guide for the Systemic Pathology.

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Saturday, September 24, 2005

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.


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