Chromosomal Disorders
Normal Male Karyotype
Chromosomal disorders come in various shapes and sizes.
The image to the left is called a karyotype.
Karyotypes are a map of the chromosomes in a person's body and a guide to see whether or not they are affected with a chromosomal disorder.
Continue to the website to learn more about Karyotyping and how to make a formal diagnosis for a patient who has requested a karyotype!
Be sure to read about identifying chromosomal disorders before you complete the assignment.
The image to the left is called a karyotype.
Karyotypes are a map of the chromosomes in a person's body and a guide to see whether or not they are affected with a chromosomal disorder.
Continue to the website to learn more about Karyotyping and how to make a formal diagnosis for a patient who has requested a karyotype!
Be sure to read about identifying chromosomal disorders before you complete the assignment.
Identifying Chromosomal Disorders
Trisomy 21: Down's Syndrome
Before you begin making your own karyotype, you need to know a few things about making and reading karyotypes.
Chromosomes are matched by the visible bands that they have as well as by the location of their centromere (mid-section) where chromosome narrows.)
In the following assignment, you will be prompted to match all 46 chromosomes on the basis of banding and centromere location. Human karyotyoes should produce 23 pairs of chromosomes. Do not be alarmed if the 23rd pair does not match up (sex chromosomes x and y are much different in size).
Karyotypes should posses either 2 "X" chromosomes (female) or 1 "X" and one "Y" (male). A disorder in which there are 2 "X" and 1 "Y" is called kleinfelter's syndrome. The prescence of the "Y" chromosome instantly makes this person male. A condition in which there are 3 "21" chromosomes is called trisomy 21 or "Down's Syndrome" (example above). Any instance where there are 3 chromosomes present for a pair, this is called a Trisomy, anytime there is only one chromosome where a pair is supposed to be is called monosomy. Monosomy conditions are often lethal (Turner Syndrome X) because only one chromosome is present where a pair needs to be or where an X should interact with a Y.
Note the differences in the pictures on this page. The first karyotype is that of a normal male "XY" and the second is that of a woman with Down's Syndrome "Trisomy 21, XX", isn't it amazing that the addition of one small chromosome can dramatically change the life of a person?
Now that you know more about karyotyping it's time for you to try one out yourself! Click the karyotyping activity button to continue to the assignment.
Chromosomes are matched by the visible bands that they have as well as by the location of their centromere (mid-section) where chromosome narrows.)
In the following assignment, you will be prompted to match all 46 chromosomes on the basis of banding and centromere location. Human karyotyoes should produce 23 pairs of chromosomes. Do not be alarmed if the 23rd pair does not match up (sex chromosomes x and y are much different in size).
Karyotypes should posses either 2 "X" chromosomes (female) or 1 "X" and one "Y" (male). A disorder in which there are 2 "X" and 1 "Y" is called kleinfelter's syndrome. The prescence of the "Y" chromosome instantly makes this person male. A condition in which there are 3 "21" chromosomes is called trisomy 21 or "Down's Syndrome" (example above). Any instance where there are 3 chromosomes present for a pair, this is called a Trisomy, anytime there is only one chromosome where a pair is supposed to be is called monosomy. Monosomy conditions are often lethal (Turner Syndrome X) because only one chromosome is present where a pair needs to be or where an X should interact with a Y.
Note the differences in the pictures on this page. The first karyotype is that of a normal male "XY" and the second is that of a woman with Down's Syndrome "Trisomy 21, XX", isn't it amazing that the addition of one small chromosome can dramatically change the life of a person?
Now that you know more about karyotyping it's time for you to try one out yourself! Click the karyotyping activity button to continue to the assignment.