CMS Biology Essential Activities Common Core: W1

Name: ___________________________________ Period: ___________

Karyotype Lab

Objective: Students will interpret karyotypes to determine the gender of individuals and whether they
have chromosomal abnormalities.

Problem:
The genetics lab has mixed up the karyotypes of 6 patients. Use what you have learned about
chromosomal disorders and the additional information provided to determine which karyotypes belong
to which patients.

The Patients:
Patient James—a 28 year old male who is trying to determine why he he can’t have children.

Patient Jane—the fetus from a 40 year-old woman. Fetal epithelial cells were obtained by
amniocentesis.

Patient Julia—a 6 month-old girl who has weakness, pain in the abdomen and joints, swelling iin the
hands and feet, and sickle shaped red blood cells.

Patient Justin—a 45 year-old man who has started having jerky uncontrolled movements and trouble
focusing his thoughts.

Patient Jenny—a 17 year-old girl who has never had a menstrual cycle, and has come in to find out why.

Patient Jeannine—a newborn baby girl who has a small head and jaw, and unusual eyes. The baby’s
crying sounds like a cat meowing.
CMS Biology Essential Activities Common Core: W1

Directions:
Look at the 6 karyotypes and complete the data table by..
1. Determining the total number of chromosomes in each karyotype

2. Record what kind of sex chromsomes each karyotype has—XX, XY or other.

3. Based on the sex chromosomes, determine if the karyotype is from a male or female.

4. Record the number of any chromosome pair where there are less than or more than 2 in a pair,
or if any chromosomes are broken.

5. Using you knowledge of chromosomal mutations and the information on the Tips sheet,
determine what disorder would arise from the chromosomal abnormality, or if all chromosomes
pairs are normal, write normal in column 6.

6. Based on the patients’ symptoms and the Tips sheet, record the patient name whose
characteristics best match the karyotype.

Data:

Karyotype Total number Sex Irregular chrom Disorder type Patient

Number Chromosomes Chromosome Gender (M/F) Pair number? or Normal ? Name_____

1 ____________

2 _____

3 _____

4 __ _________

5 _____

6 _____

For which patients were the karyotypes not helpful in diagnosing their problem?

If the problem is not the result of a chromosomal mutation, what else could be the cause of the
patient’s problem?
CMS Biology Essential Activities Common Core: W1

Karyotype #1—

Karyotype #2
CMS Biology Essential Activities Common Core: W1

Karyotype #3

Karyotype #4

Karyotype #5
CMS Biology Essential Activities Common Core: W1

Karyotype #6
CMS Biology Essential Activities Common Core: W1

Karyotype Analysis Tips

Karyotype of a Normal Male

There should be 46 chromosomes, with one X and one Y chromosome in the sex pair of
chromosomes

Karyotype of a Normal Female

There should be 46 chromosomes, with two X chromosomes in the sex pair of chromosomes.

Chromosomal Disorders:
Down Syndrome (Trisomy 21)
Nondisjunction has resulted in a karyotype with three number 21 chromosomes, for a total of
47 chromosomes. This extra chromosome is responsible for a number of symptoms: almond
shaped eyes, small mouth cavity, reduced intelligence, short stature, heart defects. Chances of
having a child with Down Syndrome increase as the mother’s age increases.

Klinefelter Syndrome (Trisomy XXY)

Nondisjunction results in a karyotype with three sex chromosomes—two X’s and one Y—for a
total of 47 chromosomes. The person will be a male, but will be sterile. Other symptoms include
enlarged breasts, above average height, proportionally longer arms, and small testes.

Cri cu Chat
This karyotype will have a normal 46 chromosomes, but a chromosomal deletion results in a
portion of chromosome number 5 to be missing. The missing genes result in the following
symptoms: mental retardation, unusual facial features, digestive and circulatory problems,
death by early childhood. Vocal cords are affected so the baby’s cry sounds like a cat meowing.

Turner Syndrome (Monosmy XO)

Nondisjunction results in a karyotype with only one sex chromosome--an X—for a total of only
45 chromosomes. The person will be female, with normal intelligence, shorter than average
height, poor development of the sex organs and sterility.
CMS Biology Essential Activities Common Core: W1