Name: ______________________________________________________ Pd: _______ Date: ___________
Karyotype Lab
Go to the Pickup Work folder and open the document titled “Link for Karyotype Lab”
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Using Karyotypes to Identify Genetic Disorders
Directions: Use the links to complete the following activities and notes on the genetic disorders that are listed.
Part 1: Overview http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/
Watch the first 5 animations: Meiosis, Fertilization, Abnormal Meiosis, Trisomy and Monosomy.
Part 2: Down Syndrome http://learn.genetics.utah.edu/content/disorders/whataregd/down/index.html
1) Caused by ____________ copy of chromosome # ______.
2) This disorder is also called _________________ ______.
3) Extra copy causes gene to produce more ___________________ than normal.
4) Caused by __________________________,in which chromosome # ______ fails to separate during meiosis and
every cell in the baby’s body ends up with ____ copies of chromosome #21.
5) Nondisjunction occurs more commonly in ____________ ________________, which increases the risk of having a
baby with Down’s syndrome in women that are ages _____ and older.
6) Watch the video on this page and then answer the question by filling in the blanks of the sentenceThe problem
with the zygote as a result of Trisomy is that there are ____ copies of one of the chromosomes. (_____ total
chromosomes)
7) Symptoms include:
-
Distinct facial features such as: _________ face, small broad __________, abnormal shaped ________, large
_________________, __________________ slanted eyes.
-
Medical problems such as heart ______________.
-
Also exhibit moderate to severe mental ________________________.
8) Interesting Facts:
-
In 90% of the cases, extra chromosome is usually from mother’s ______.
-
Affects 1 out of every _______________________ births.
-
How was Down’s syndrome named?
9) Use the diagram below to fill in the blanks:
-
The mother’s egg has _____ copies of chromosome ______.
-
The father’s sperm has _____ copy of chromosome ______.
-
Example:
#21
#21
#21
Egg
Sperm
Part 3: Turner Syndrome http://learn.genetics.utah.edu/content/disorders/whataregd/turner/index.html
1) Caused by a _______________ or incomplete ________ chromosome.
2) Which sex does Turner Syndrome only affect? ( Circle one: males or females)
3) Caused by __________________________, in which _________ chromosomes fail to separate during meiosis and
every cell in the baby’s body ends up with missing one of the _______ chromosomes.
4) Why is this not an inherited disease (passed down from parent to child)?
_______________________________________________________________
5) Watch the video on Monosomy:
-
The egg cell is missing a copy of ______ chromosome. (______ total chromosomes)
-
When the sperm and egg form a zygote, it has only ______ copy of ______ chromosome. (_______ total
chromosomes).
Example:
No sex
chromosome
6) It causes symptoms such as:
X
egg
sperm
-
___________ than normal , fail to start ______________ because ________________ fail to develop properly.
-
Have a ____________ appearance, arms _________________________ slightly at the elbow, a
_____________ webbed neck, and a __________ hairline in the back of head.
-
Medical conditions such as: __________________ of the hands and feet, ________________ and/or
___________________ defects, high blood pressure, and ______________________ (unable to have children).
7) Interesting Facts:
-
This disorder occurs about ____ in 2000 to 2500 births.
-
In ____ to ____ % of the cases, the single ____ chromosome comes from the mother's _____ because the
father's ________ that fertilizes the egg is missing a _____ chromosome.
Example:
X
egg
-
No sex
chromosome
sperm
Why is it much worse to be missing an X chromosome than a Y chromosome?
Part 4: Klinefelter Syndrome http://learn.genetics.utah.edu/content/disorders/whataregd/klinefelter/index.html
1) Which sex does Klinefelter Syndrome only affect? ( Circle one: males or females)
2) Males who have Klinefelter syndrome have an extra ______ chromosome (XXY), giving them a total of _______
chromosomes.
3) People with Klinefelter Syndrome have characteristics that become apparent (or noticeable) during
________________.
4) They are often ________
5) Also, they do not develop ______________________ _________ characteristics such as _____________ hair, or
______________________ and _____________ hair.
6) Caused by ______________________, when a pair of ________ chromosomes fails to separate during meiosis and
every cell in the baby’s body ends up with ________ copies of the _______ chromosomes (XXY) instead of the
normal ________ (XY)
7) Watch the video on this page and then answer the question by filling in the blanks of the sentence: The problem
with the zygote as a result of Trisomy is that there are ______ copies of one of the chromosomes. (______ total
chromosomes)
X
egg
XY
sperm
8) Interesting Facts: - affects between 1 in _______ and 1 in ___________ males.
Part 5: Click on the “karyotype quiz” link. Scroll to the bottom of this webpage to find the quiz.
http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/
When you are done with the quiz show your teacher and get their initials right here  _____
Part 6: Use the internet to research these two other chromosomal disorders
1) Patau Syndrome
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Describe the problem with the chromosomes:
-
Name at least three symptoms:
2) Edward’s Syndrome
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Describe the problem with the chromosomes:
-
Name at least three symptoms:
Optional Part 7: Making a Karyotype http://learn.genetics.utah.edu/content/begin/traits/karyotype/