Karyotyping

Name _______________________________
Pd _______ Date ___________________

In this activity, you will use a computer model to look at chromosomes and prepare a karyotype.
You will diagnose patients for abnormalities and learn the correct notation for characterizing
karyotypes.

Site 1: Karyotyping Activity

http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
Introduction page:
1. What causes a dark band on the chromosome? _________________________
2. What is a centromere? ____________________________________________

Patient Histories: *Click on Patient Histories. You will be completing a

karyotype for Patient A, B & C
Patient A (Click on the link to "Complete Patient A's Karyotype")
Match the chromosome to its homolog. Remember, at this stage each chromosome has been
copied, and what you perceive as a single chromosome is two sister chromatids connected to
each other. It is these identical, connected chromatid sisters, which are being matched up. Dad
and copy of dad (linked) are matched up with mom and copy of mom (linked) sisters. After all the
matches are complete, you'll analyze your patient. (Scroll down to view your completed
karyotype). Each chromosome # in a normal karyotype will have 4 chromatids total, arranged as
two chromosomes (each chromosome has two connected chromatids).

What is patient A's history (summarize)

______________________________________________

How many total chromosomes are in your karyotype - count them _________

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 an XY (male). What sex
chromosomes does your patient have? ________

Which chromosome set has an extra + _______

What diagnosis would you give this patient (what disease)? ______________

Capture a screen shot of the karyotype for Case A. Use (Command/shift 4 )and paste
here:

 Patient B - click on the link to go to Patient B and repeat the above

process.

What is Patient B's history (summarize) ___________________________

How many total chromosomes are in your karyotype - count them _________

What sex chromosomes does your patient have ________

Which chromosome set has an extra + _______

Finish the notation for this patient's karyotype : 47 X _____

What is the diagnosis? __________________________________

Capture a screen shot of the karyotype for Case B. Use (Command/shift 4 )and paste
here:

Patient C - click on the link to go to Patient C and repeat the above

process.

What is patient C's history (summarize)? _____________________________

How many total chromosomes are in your karyotype - count them _________

What sex chromosomes does your patient have ________

Which chromosome set has an extra + _______

Write out the correct notation for this karyotype. ________

What is the diagnosis? _________________________________________

Capture a screen shot of the karyotype for Case C. Use (Command/shift 4 )and paste
here:

Site 2: How do scientists read chromosomes?

http://learn.genetics.utah.edu/content/begin/traits/scientists/
1. What are the three key features used to read chromosomes?
a. _____________________________
b. _____________________________
c. _____________________________
2. Sketch or describe:
a. metacentric b. submetacentric
c. acrocentric

Site 3: Make a Karyotype

http://learn.genetics.utah.edu/content/begin/traits/karyotype/

Create your own karyotype - turning on hints is okay.

Capture the finished karyotype..use (Command/shift 4 )and paste here:

What did you find difficult about matching the chromosomes? _______________

Site 4: Predicting Genetic Disorders

http://learn.genetics.utah.edu/content/chromosomes/diagnose/

Play the simulation for deletions. What are the two types of deletions and provide a brief
description.
a.
b.

Play the simulation for translocation. What are the two types of translocations and provide
a brief description.
a.
b.

Investigate the five disorders: For each disorder, give the (a) name, (b) brief description of
what is happening, (c) the result/symptoms.

Disorder
Brief
description
Results/sympt
oms
Disorder
Brief
description
Results/sympt
oms
Disorder
Brief
description
Results/sympt
oms
Disorder
Brief
description
Results/sympt
oms
Disorder
Brief
description
Results/sympt
oms

Extra Challenge

http://bluehawk.monmouth.edu/~bio/karyotypes.htm

Pick from the list of Unknown Karyotypes and arrange the chromosomes in a karyotype. Use
the "print screen" button to copy your finished karyotype. For "Diagnosis" write the chromosome
set that has the abnormality, and what type of abnormality it is. You may have to research!