Name: Date:

Student Exploration: Human Karyotyping

Directions: Follow the instructions to go through the simulation. Respond to the questions and
prompts in the orange boxes.

Vocabulary: autosome, chromosomal disorder, chromosome, genome, karyotype, sex chromosome

Prior Knowledge Question (Do this BEFORE using the Gizmo.)

A chromosome is a rod-shaped structure made of coils of DNA. Most human cells have 23 pairs of chromosomes.

1. Why do you think humans have two sets of 23 chromosomes? (Hint: Where did each set come from?)

Humans have two sets of 23 chromosomes (46 in total). One set of chromosomes
comes from the mother and the other set of chromosomes comes from the father.

2. How do you think different people’s chromosomes would compare?

Different people’s chromosomes result in unique features such as shape, looks, etc.

Gizmo Warm-up
Scientists use karyotypes to study the chromosomes in a cell. A karyotype is a
picture showing a cell’s chromosomes grouped together in pairs.

In the Human Karyotyping Gizmo, you will make karyotypes for five individuals.
Take a look at the SIMULATION pane. Use the arrows to click through the
numbered list of chromosomes at the bottom right of the pane.

1. How does the appearance of the chromosomes change as you move

through the list?

The chromosomes get smaller and smaller as you move through the list.

2. Examine the chromosomes labeled x and y. How do these two chromosomes

compare?

The chromosome labeled x is much larger than the chromosome labeled

y.

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***Hint - For these next activities, when matching the chromosomes to make karyotype charts for
Subjects A-E, look for the “Batch” button to become highlighted as you are completing the activity.
Once it is highlighted, when you press the button it will complete the matching in groups so that the
process will be much quicker and easier.***

Activity A:
Get the Gizmo ready:
Male and female
● Click Reset.
karyotypes

Question: How are male karyotypes different from female karyotypes?

1. Compare: In the SIMULATION pane, make sure Subject A is selected. Click on and drag one of subject
A’s chromosomes to the area labeled Identify. Use the arrows to compare the chromosome you picked
with chromosomes 1 through 22 and also with X and Y.

Which chromosome did you select? 2

2. Create: Drag the chromosome to the appropriate position on the KARYOTYPING pane. Then select
another chromosome, identify it, and place it on the karyotype.

When you have identified and placed all of the chromosomes, click the camera ( ) to take a snapshot of
the karyotype. Paste the snapshot below, and label it “Subject A.”

📷 Subject A

3. Count: Chromosomes 1 through 22 are called autosomes. Examine the karyotype you have created.

How many total autosomes do human cells have? 22

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4. Draw conclusions: Look at chromosome pair 23. These chromosomes are known as sex chromosomes
because they determine the sex of an individual. Females have two copies of the X chromosome. Males
have one X chromosome and one Y chromosome.
Examine the karyotype. Is subject A a male or female? Male

How do you know? Chromosome pair 23 has one X chromosome and one Y chromosome.

Click the DIAGNOSIS tab to check your answer.

5. Analyze: Select Subject B from the SIMULATION pane. Complete subject B’s karyotype. Take a
snapshot of the completed karyotype, paste it into your document, and label it.
📷

📷 Subject B

Examine the karyotype. Is Subject B a male or female? Female

How do you know? It has two copies of the X chromosome.

Click the DIAGNOSIS tab to check your answer.

6. Think and discuss: On the SIMULATION pane, compare the X and Y chromosomes. Which chromosome
do you think has more DNA? Explain.

I think chromosome X has more DNA because it is larger and longer.

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 Activity B:
Get the Gizmo ready:
Chromosomal
● Click Reset.
disorders

Question: How can you use a karyotype to diagnose a disease?

1. Compare: Select Subject C from the SIMULATION pane. Identify each of subject C’s chromosomes, and

📷
place them on the KARYOTYPING pane. Once you have completed the karyotype, take a
it. Paste the snapshot into the table below.
snapshot of 📷
SUBJECT SNAPSHOT OF COMPLETED KARYOTYPE

Subject C

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Subject D

Subject E

How does subject C’s karyotype differ from a normal karyotype?

It has two X chromosomes as well as a Y chromosome.

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2. Diagnose: A chromosomal disorder occurs when a person’s cells do not have the correct number of
chromosomes. The table below lists three common chromosomal disorders.
Disorder Description Subject Symptoms

Poor muscle tone, small head, broad feet with short

toes, speech problems, respiratory problems, heart
Extra
Down defects, etc.
chromosome E
syndrome
21

Testicular changes in puberty and secondary

sexual characteristics don’t develop.
Klinefelter Extra X in male
C
syndrome (XXY)

Webbed neck, short stature, infertility, improper

development of ovaries, etc.
Turner Single X in
D
syndrome female (XO)

Use the table to determine which disorder subject C has. Record your diagnosis in the third column of the
table, and then click on the DIAGNOSIS tab to check your answer. Summarize the information on the
DIAGNOSIS tab in the fourth column of the table.
Repeat: Complete the karyotypes for Subject D and Subject E. Determine which disorder each subject
has, and use the information from the Gizmo’s DIAGNOSIS tab to complete the table. Be sure to keep
snapshots of both karyotypes and paste them in the table that you placed Subject C’s completed karyotype
in above.

3. Generalize: Another chromosomal disorder, called Edward’s syndrome, occurs when a person’s cells have
three copies of chromosome 18. People who have Edward’s syndrome have severe intellectual disabilities
and their skeletons are malformed. Most people with Edward’s syndrome die in infancy.

Use the above information about Edward’s syndrome and the descriptions of Down syndrome, Klinefelter
syndrome, and Turner syndrome in the table on the previous page to compare these four different
chromosomal disorders.

A. Which type of chromosomal disorders seems to have the greatest affect on a person’s
health—disorders involving autosomes or sex chromosomes?

When a person’s cells have three copies of chromosome 18, it causes most people to die
during infancy.

B. Why do you think this might be the case?

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 This might be the case because having three copies of a chromosome might be too
much information for the body to handle resulting in death at a very young age.

4. Extend your thinking: Klinefelter syndrome only affects males, and Turner syndrome only affects females.
Examine the karyotypes of the subjects you diagnosed with Klinefelter syndrome and Turner syndrome.

A. How do you think sex is determined in a person with a chromosomal disorder involving the sex
chromosomes?

Sex is determined in a person with a chromosomal disorder involving the sex

chromosomes because if there are only X chromsomes, it’s a female and if there are X
and Y chromosomes, it’s a male.

B. Individuals with a genetic disorder called trisomy X have three X chromosomes. (These individuals
are normal and do not have any particular symptoms.)

What sex would a person with trisomy X be? Female

5. Summarize: The genome of an organism is its total genetic material. What aspects of the genome can and
cannot be determined through karyotyping?

Through karyotyping, you can determine a person’s sex and their chromosomal disorders but
you can’t determine the severity of the disorder or the person’s traits.

6. Complete the 5 multiple choice assessment questions at the bottom of the Gizmo simulation.

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