3/25/2015

Human Genetics Revisited.docx

http://learn.genetics.utah.edu/

Human Genetics Revisited

1. Visit this link, and answer the questions that follow:

http://learn.genetics.utah.edu/content/chromosomes/intro/
a. What is a chromosome? A chromosome is a storage unit for DNA
b. How many chromosomes are in a human body cell? In a human body cell there are 46
chromosomes
c. How many chromosomes are in human gametes? There are 23 chromosomes in human gametes
d. What are sex chromosomes exactly? Sex chromosomes are X and Y
e. How many chromosomes are in a carp (type of fish)? There are 104 chromosomes in a carp

2. Visit this link, and answer the questions that follow:

http://learn.genetics.utah.edu/content/chromosomes/diagnose/
a. What are homologous chromosomes? They are chromosomes that have all the same genes
arranged in the same order
b. What is fertilization? Fertilization is when an egg and sperm come together to make a cell with
46 chromosomes
c. What is the end product of mitosis? The end product of Mitosis is the copying of each
chromosome and the division of them to create a zygote.
d. What is the end product of meiosis? The end result of meiosis is the reduction of
chromosomes by half and the giving of genetic diversity
e. Too many or too few chromosomes:
b. What is trisomy? A zygote with three copies of the same chromosome
c. What is monosomy? A zygote that is missing a chromosome
d. What are the characteristics of someone with Klinefelters Syndrome (XXY)? They
have various body issues such as height, overweight, slow growth during puberty and
sometimes minor mental disablilties
e. Turner Syndrome? (X): These people develop as underdeveloped females, lacking full
reproductive organs and they also are shorter than usual.
f. Down Syndrome? (trisomy 21)People with Down syndrome have distinct facial
features: a flat face, a small broad nose, abnormally shaped ears, a large tongue, and
upward-slanting eyes with small folds of skin in the corners.
f. Missing pieces:
b. What is a terminal deletion? When a chromosome is lost during meiosis
c. What is the cause and characteristics of someone with Cri-du-Chat Syndrome? It is
caused by abnormal larynx development, the characteristics that the babies are small at
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Human Genetics Revisited.docx

birth, and have respiratory problems. Often, the larynx doesn't develop correctly, which
causes the cat sounding cry
d. Williams Syndrome?
g. Translocations:

http://learn.genetics.utah.edu/

a. What is a reciprocal translocation?

3. Visit the following link: http://learn.genetics.utah.edu/content/history/

Read about any three conditions, and summarize what you learned below: (in your own words,
of course )
1.
2.
3.

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