Name ________________________________________________________ Date __________ Pd ____
Clues From the Karyotype
Problem
How can a karyotype be used to identify chromosomal abnormalities in humans?
Background
Karyotyping is the way geneticists identify, organize, and study human chromosomes. Cells from tissue
are placed in a culture medium and then chemically treated to stop mitosis at metaphase. Stopping mitosis
at metaphase allows the chromosomes to be spread out easily for observation.
The cells are stained for examination under a microscope, and the chromosomes are photographed. The
photo is enlarged and the individual chromosomes are cut out. Normally, there are 22 pairs of autosomes
and one pair of sex chromosomes. They are divided into seven groups according to their length, the
position of their centromeres, and their banding patterns.
The distinctive banding patterns created after the chromosomes have been stained are used to organize
the chromosomes into homologous, or matching, pairs. This arrangement of chromosomes is called a
karyotype. In this lab you will study a karyotype and analyze the information it provides.
Questions
1. How do geneticists use karyotypes? ___________________________________________________
2. Chromosomes are divided into seven groups according to what three characteristics? ______________
__________________________________________________________________________________
3. What role do banding patterns play when organizing the chromosomes? ________________________
__________________________________________________________________________________
4. What is a karyotype? _________________________________________________________________
__________________________________________________________________________________
5. Study the normal karyotypes of human chromosomes below. Notice that the chromosomes are
arranged in pairs, which are numbered. Identify each one as either male or female.
Male or Female? ______________________________ Male or Female? ______________________________
How many chromosomes are present? ____________ How many chromosomes are present? ____________
6. Explain how you can tell the difference between a male and female karyotype. ___________________
__________________________________________________________________________________
__________________________________________________________________________________
Each karyotype below shows a male or female with a genetic disorder. Your mission is to identify the disorder. The
disorders shown are Down syndrome, Klinefelter’s, Trisomy X, Turners syndrome, and XYY.
7. 8.
Disorder shown? ______________________________ Disorder shown? ______________________________
Male or Female? ______________________________ Male or Female? ______________________________
How many chromosomes are present? ____________ How many chromosomes are present? ____________
9. 10.
Disorder shown? ______________________________ Disorder shown? ______________________________
Male or Female? ______________________________ Male or Female? ______________________________
How many chromosomes are present? ____________ How many chromosomes are present? ____________
11. 12. What causes the disorders above? _____________________
13. Which of the disorders above involve the sex chromosomes?
_________________________________________________
14. Which of the disorders above involve autosomal chromosomes?
_________________________________________________
15. What can you conclude about the number of chromosomes
someone would have with any one of these disorders?
_________________________________________________
_________________________________________________
Disorder shown? ______________________________
_________________________________________________
Male or Female? ______________________________
_________________________________________________
How many chromosomes are present? ____________
