Name___________________________________Per.____
Date__________
Elaborate: What Can a Karyotype Tell Us?
http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
This exercise is a simulation of human karyotyping using digital images of chromosomes from actual human
genetic studies. You will be arranging chromosomes into a completed karyotype, and interpreting your findings
just as if you were working in a genetic analysis program at a hospital or clinic.
1. What is a karyotype?
2. What are G bands?
3. What other information is used to group chromosomes into homologous pairs?
You will now evaluate 3 patients' case histories, complete their karyotypes, and diagnose any missing or extra
chromosomes. Click on
4. Describe Patient A:
Now complete Patient A’s karyotype. You will look at the chromosome to the left of the text and then click on the
chromosome number in the karyotype that appears to be its homologue.
When you finish with the karyotype, answer the questions below:
5. What notation would you use to characterize Patient A's karyotype? ______________________
6. What diagnosis would you give patient A? ____________________________________________
7. Refer to your sheet of chromosomal disorders and summarize the prognosis for people with this
disorder.
Move on to Patient B and move through the exercise as you did for A.
8. Describe Patient B:
9. What notation would you use to characterize Patient B's karyotype? ______________________
10. What diagnosis would you give patient B? ____________________________________________
11. Refer to your sheet of chromosomal disorders and summarize the prognosis for people with this
disorder.
Move on to Patient C.
12. Describe Patient C:
13. What notation would you use to characterize Patient C's karyotype? ______________________
14. What diagnosis would you give patient C? ____________________________________________
15. Refer to your sheet of chromosomal disorders and summarize the prognosis for people with this
disorder.
Go to the March of Dimes website and read the information they provide:
http://www.marchofdimes.com/baby/birthdefects_chromosomal.html
16. How common is some form of chromosomal abnormality?
17. Do all chromosomal abnormalities result in a live birth? Explain.
18. What generally causes chromosomal abnormalities?
Define the following terms:
19. Trisomy:
20. Deletion:
21. Inversion:
Read their descriptions of Down Syndrome, Edward’s Syndrome, and Patau Syndrome. Notice any differences
between the prognoses.
22. How does the March of Dimes refer to levels of cognitive functioning?
Go to the following site and read Rosa’s Law:
http://www.gpo.gov/fdsys/pkg/BILLS-111s2781enr/pdf/BILLS-111s2781enr.pdf
23. Obviously, we need to update our materials. Do you need to update your own vocabulary?
24. What is the “new” R word that we should always remember?