Name: ______________________________________ Date: ________________________

Student Exploration: Human Karyotyping

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

We have 2 sets because we get one set from mother and another from
come from?) ______________________________________________________________
father
_________________________________________________________________________

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

They would be extremely similar in nearly every aspect except for some small human to human genetic differences.
_________________________________________________________________________
the structure is identical.
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

they get smaller
you move through the list? __________________________

________________________________________________

_________________________________________________

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

x is big and y is smol they are also not pairs like the rest
______________________________________________________________________

______________________________________________________________________

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 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.

B
Which chromosome did you select? ____________________________________________

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 into a document, and label it “Subject A.”

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

44
created. How many total autosomes do human cells have? __________________________

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.

Male
Examine the karyotype. Is subject A a male or female? _____________________________
they have one x and one y
How do you know? _________________________________________________________

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

they had 2 x chromosomes

How do you know? _________________________________________________________

Click the DIAGNOSIS tab to check your answer.

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

_________________________________________________________________________

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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 snapshot of it. Paste the snapshot into a document. Label it “Subject C.”

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

2 X and one Y chromosome

_________________________________________________________________________

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

E short neck, excess skin at back of neck
flattened facial profile and nose
Down Extra small heard, ears, and mouth
syndrome chromosome 21 upwars slanting eyes
anxiety, obsessive-compulsive behaviour,
oppositional behaviour, depression, tics.
c weaker bones
lower energy levels
Klinefelter Extra X in male delayed or half puberty
syndrome (XXY) Taller and less muscular body
wider hips and longer legs/arms
larger breasts (gynecomastia)
D hearing problems
spatial awareness issues
Turner Single X in teeth problems
syndrome female (XO) Short stature
infertility
congenital heart defects

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. 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.

(Activity B continued on next page)

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Activity B (continued from previous page)

4. 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?
Disorders involving autosomes have the greatest effect on health.
___________________________________________________________________

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

Klinefelter and Turner syndrome is very mild in comparison to Down syndrome. Autosomes
___________________________________________________________________
carry more of the genetics that are essential for life and bodily function, regardless of sex
___________________________________________________________________
while sex chromosomes carry less of that and more sex-releted genetics
___________________________________________________________________

5. 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

The presence of a Y chromosome is what
involving the sex chromosomes? _________________________________________
deterimines sexuality.
___________________________________________________________________

B. Individuals with a genetic disorder called trisomy X have three X chromosomes.

(These individuals are normal and do not have any particular symptoms.)
female
What sex would a person with trisomy X be? _______________________________

6. Summarize: The genome of an organism is its total genetic material. What aspects of the
genome can and cannot be determined through karyotyping?
Karotyping checks the integrity of the chromosome set you have or for the # of chromosomes,
_________________________________________________________________________
but not what is on the genes themselves (genetic disorders). This means something like
_________________________________________________________________________
sickle cell anemia or cystic fibrosis would not be detected through karotyping
_________________________________________________________________________

_________________________________________________________________________

2019