Student Exploration: Human Karyotyping

Name: Turkan Amirova 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 chromosom
1. Why do you think humans have two sets of 23 chromosomes? (Hint: Where did each set come from?)
I think we have 2 sets because we get one set from each parent.
2. How do you think different people’s chromosomes would compare?
Each persons would be unique and different.
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?
As we move through the list, the size and shape changes.
2. Examine the chromosomes labeled x and y. How do these two chromosomes
compare?
X is bigger than Y
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? I chose 8
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.
3. Count: Chromosomes 1 through 22 are called autosomes. Examine the karyotype you have
created.
How many total autosomes do human cells have? 22
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? It has an X and Y chromosome.
Click the DIAGNOSIS tab to check your answer.
Take a 📷
5. Analyze: Select Subject B from the SIMULATION pane. Complete subject B’s karyotype.
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 2 chromosomes
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 the X chromosome has more DNA than as it is bigger than the Y chromosome,
therefore it probably has a longer DNA strand.
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.
How does subject C’s karyotype differ from a normal karyotype?
Subject C’s karyotype differs from a normal one as it has three X/Y chromosomes
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
Small head, respiratory problems, vision and

speech problems, hearing loss, and heart defects
Down Extra
E
syndrome chromosome 21
Klinefelter Extra X in male

C testicular changes in puberty and secondary sex
syndrome (XXY)
characteristics do not develop
Incorrect development of ovaries and hormone
production-sex hormones
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.
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?
Having three copies of chromosome 18 causes people to die as infants.
B. Why do you think this might be the case?
I think this happens because the extra genetic material disrupts the normal course of
development which then causes the infant to die :(
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 chromosome abnormalities are gender specific. Normal males get one X and one Y
chromosomes while females get two X’s.
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?
You can’t determine the person’s traits or how severe a disorder they may have is.

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Name: Turkan Amirova Date:

Student Exploration: Human Karyotyping

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

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

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

Each persons would be unique and different.

In the ​Human Karyotyping​ Gizmo, you will make karyotypes for

1. How does the appearance of the chromosomes change as

As we move through the list, the size and shape changes.

Question: How are male karyotypes different from female karyotypes?

Which chromosome did you select? I chose 8

How many total autosomes do human cells have? 22

How do you know? It has an X and Y chromosome.

Click the DIAGNOSIS​ ​tab to check your answer.

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

Click the DIAGNOSIS​ ​tab to check your answer.

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

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

Disorder Description Subject Symptoms

Small head, respiratory problems, vision and

Klinefelter Extra X in male

3. Generalize​: Another chromosomal disorder, called Edward’s syndrome, occurs when a

A. Which type of chromosomal disorders seems to have the greatest affect on a

Having three copies of chromosome 18 causes people to die as infants.

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

A. How do you think sex is determined in a person with a chromosomal disorder

What sex would a person with trisomy X be? female

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

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

In the Human Karyotyping Gizmo, you will make karyotypes for

Click the DIAGNOSIS tab to check your answer.

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

Click the DIAGNOSIS tab to check your answer.

3. Generalize: Another chromosomal disorder, called Edward’s syndrome, occurs when a