Download Karyotype on line Activity

http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
Name_______________________________________ Date_______________
Biology-Hammerstedt
An On-line Karyotyping Activity - Ch 11 Section 3
Directions: You are to work individually on this assignment. There are two parts. You
expected to complete Part I during this session. You can begin Part II during this session if
time allows. If you are unable to complete Part II during this session it is expected that you will
have found the time, independently, to complete it by ______________________________.
Your summary for Part II may include a short document. Your material(s) will be turned in and
you may picked to present the information to the class, “nonpresenters” will have an
alternative evaluative task. If you decide to incorporate findings into some other type of
presentation (power point, poster, pamphlet… this will potentially result in a grade higher than
100%-given that information is correct/complete/neat, etc…).
Purpose: This exercise is a simulation of human karyotyping using digital images of
chromosomes from actual human genetic studies. You will be arranging chromosomes into a
completed karyotype, and interpreting your findings just as if you were working in a genetic
analysis program at a hospital or clinic.
Your assignment
This exercise is designed as an introduction to genetic studies on humans. Karyotyping is one
of many techniques that allow us to look for several thousand possible genetic diseases in
humans.
You will evaluate 3 patients' case histories, complete their karyotypes, and diagnose any
missing or extra chromosomes. Then you'll conduct research on the internet to find web sites
that cover some aspect of human genetics. You will turn in a total of 7 answers on paper (2 for
each patient, 1 for the internet search).
Interpretation & Diagnosis:
Diagnosis
Chromosomal Abnormality
Normal # of chromosomes
patient's problems are due to something other
than an abnormal number of chromosomes
Klinefelter's Syndrome
one or more extra sex chromosomes (i.e., XXY)
Down's Syndrome
Trisomy 21, extra chromosome 21
Trisomy 13 Syndrome
extra chromosome 13
Patient A
A 1. What notation would you use to characterize Patient A's karyotype?
A 2. What diagnosis would you give patient A?
Patient B
B 1. What notation would you use to characterize Patient B's karyotype?
B 2. What diagnosis would you give patient B?
Patient C
C 1. What notation would you use to characterize Patient C's karyotype?
C 2. What diagnosis would you give patient C?
Final part of assignment
Now, the final part of this activity is to search the internet for web sites that cover some
interesting aspect of human genetics. Get more information on the disorders seen here or
research other chromosomal disorders or any of the genetic disorders discussed in class. Be
original and find out something that we have not discussed to date.
An excellent way to conduct internet searches is to use a meta-search engine such as Dogpile at
http://www.dogpile.com. At the Dogpile site, when you type in key words, Dogpile will search
all of the major search engines on the web and compile the result for you in nice, friendly
format.
After you conduct your internet search, at the bottom this paper, add the web address of a
human genetics web site that you like, the title of that site, and a 2-3 sentence summary of the
site's content. Do not go to the more “generic” sites such as wiki or ask. Try to find, at
minimum, 2 sources. You may wish to complete this on another page/paper.
Web site Address
Title of Web page(s)
Summary