Homework Review: Diagnosing Genetic Conditions based upon Karyotypes

1. What observations can you make regarding patient A’s karyotype?

2. What diagnosis would you give to patient A? Explain your answer. The fetus is female. There are three chromosomes in position 21, so she has Trisomy-21 or Down Syndrome. 47, XX, +21

3. What observations can you make regarding patient B’s karyotype?

4. What diagnosis would you give patient B? Explain your answer. The patient is male, but has an extra sex chromosome. The patient has Kleinfelter Syndrome. 47, XXY

5. What observations can you make regarding patient C’s karyotype?

6. What diagnosis would you give patient C? Explain your answer. The patient is male, and has an extra chromosome in position 13. This is Patau Syndrome or Trisomy 13 47, XY, +13