1. GRADING RUBRIC
Karyotyping Activity
TOTAL POINTS = 43 points

2. 2 points Site 1: www.biology.arizona.edu
Click on Karyotyping under human biology and read the Introduction page:
1. What causes a dark band on the chromosome? Giemsa dye
2 points

3. 2. What is a centromere? areas where the two chromatids are joined
2 points

4. Patient A ( Click on the link to "Complete Patient A's Karyotype" )
*Match the chromosome to its homolog. After all the matches are complete you'll analyze your patient. (Scroll down to view your completed karyotype).
3. What is patient A's history (summarize)
nearly full term fetus of a 40 year old female
2 points

5. 4. How many total chromosomes are in your karyotype - count them 47
The last set of chromosomes is the sex chromosomes, if you have two large chromosomes, your patient is XX (female), one large and one small indicates and XY (male) . What sex chromosomes does your patient have XX
Which chromosome set has an extra + 21
3 points

6. 5. What diagnosis would you give this patient (what disease)
5. What diagnosis would you give this patient (what disease)? Down Syndrome
2 points

7. Patient B - click on the link to go to Patient B and repeat the above process.
6. What is Patient B's history (summarize)
28 year old male, infertile
2 points

8. 7. How many total chromosomes are in your karyotype - count them 47
What sex chromosomes does your patient have XXY
Which chromosome set has an extra + X
3 points

9. 8. Finish the notation for this patient's karyotype :
47 X XY
2 points

10. 9. What is the diagnosis? Klinefelter's Syndrome
2 points

11. Patient C - click on the link to go to Patient C and repeat the above process.
10. What is patient C's history (summarize)? died shortly after birth
2 points

12. 11. How many total chromosomes are in your karyotype - count them 47
What sex chromosomes does your patient have XY
Which chromosome set has an extra + 13
3 points

13. 2 points 12. Write out the correct notation for this karyotype.
47 XY +13
2 points

14. 13. What is the diagnosis? Trisomy 13 Syndrome
2 points

15. Site 2: Genetic Science Learning Center ( http://learn. genetics. utah
Go to "heredity and traits" --> "How Do Scientists Read Chromosomes"
(Find the answers to the following questions in this area. Browse all sections)
1. What are the three key features used to read chromosomes?
size
banding pattern
centromere position
3 points

16. 2. Sketch or describe: metacentric, submetacentric, acrocentric
metacentric - centromere is near the center
submetacentric - one arm is much shorter than the other
acrocentric - centromere lies at one end
2 points

17. 3. Got to Make a Karyotype - Try it yourself - Create your own karyotype - turning on hints is okay.
Check this box when your karyotype is complete
What did you find difficult about matching the chromosomes?
answers vary, chromsomes can be difficult to match
2 points

18. 3 points 4. Go to - Using Karyotypes to Predict Genetic Disorders
What is trisomy? extra chromosome, individual has 3 instead of 2 for a group
What is monosomy? missing chromosome, only one in a pair is present
What is a terminal deletion? a chromosome is missing a piece, usually the tip
3 points

19. 5. For each of the Disorders, describe the chromosome abnormality and the symptoms.
Cri Du Chat -name of this syndrome is French for "cry of the cat," caused by a delection of chromosome #5
Turner Syndrome - missing or incomplete X chromosome, girls with this disorder are shorter than normal, and may fail to start puberty when they should.
Klinefelter Syndrome -  males who have Klinefelter syndrome have an extra X chromosome (XXY), males have less muscular body, and grow very little facial or body hair, also infertile
Williams Syndrome - missing genetic material from chromosome 7, causes problems with the circulatory system and heart defects.
4 points

20. TOTAL POINTS = 43 points