Chromosomal Changes Answers

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1
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Explain a chromosome deletion and the effect it can have on a human.

Answer:

A chromosome deletion occurs when part of a chromosome breaks off and does not reattach, resulting in the loss of one or more genes. For example, deletion of part of chromosome 22 can cause DiGeorge syndrome, which may cause cleft palate, immune deficiency, developmental issues, and learning difficulties.

2
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What did you include in your response? Check all that apply.

A
Part of a chromosome breaks off and does not reattach.
B
It results in the loss of one or more genes.
C
DiGeorge syndrome occurs when part of chromosome 22 is deleted.
D
DiGeorge syndrome causes cleft palate, immune deficiency, developmental issues, and learning difficulties.
3

Explain a chromosome insertion and the effect it can have on a human.

Answer:

An insertion is when a piece breaks off from one chromosome and attaches to another chromosome. If the inserted portion contains genes already present, then those genes can be duplicated. Fragile X syndrome is sometimes caused by expansion to about 700 repeats in the FMR1 gene; these individuals may have delays in crawling or walking, hyperactive or impulsive behavior, intellectual disability, flat feet, flexible joints and large body size.

4

What did you include in your response? Check all that apply.

A
It occurs when part of a chromosome breaks off and attaches to another chromosome.
B
It results in the duplication of these genes on the same chromosome.
C
Fragile X syndrome can occur where a person would have 700 insertion repeats.
D
Difficulties include delay in crawling or walking, hyperactive or impulsive behavior, mental retardation, flat feet, flexible joints, and large body size.
5

Explain how an unbalanced translocation occurs and how it affects humans.

Answer:

An unbalanced translocation is a type of chromosomal abnormality in which the genetic material is rearranged such that some regions are duplicated or missing. This can occur when a child inherits chromosomes from a parent who carries a balanced translocation, resulting in the child having extra or missing genetic material, and different proportions of chromosome arms. There can also be Robertsonian translocations. Symptoms can include fertility issues, Down syndrome, birth defects of the heart and learning difficulties.

6

What did you include in your response? Check all that apply.

A
It occurs when a child inherits a chromosome with extra or missing genetic material from a parent with a balanced translocation.
B
Robertsonian translocations can occur.
C
The arms of the chromosome are not the same proportion as a person with normal chromosomes that do not have a mutation.
D
Difficulties include reproductive consequences, Down syndrome, congenital heart disease, and learning disabilities.
7

Describe nondisjunction and the effect it can have on a human.

Answer:

Nondisjunction is the failure of chromosomes to separate properly during meiosis. It can produce gametes with an abnormal number of chromosomes. For example, an extra X chromosome can cause Klinefelter syndrome (47,XXY), which may involve smaller testes, sterility, and taller stature with usually normal intelligence.

8

What did you include in your response? Check all that apply.

A
It is the failure of homologous chromosomes to separate properly during gamete formation (meiosis).
B
Klinefelter syndrome can occur and is seen as males with gametes XXY instead of XY.
C
It affects sex organs, including creating smaller testes and causing sterility.
D
Males can be taller in stature with normal intelligence.

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