Transcript Inheritance Review

What do you know?
Testing the unborn
Chromosomal
disease
Genetic disease
100
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200
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400
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400
The challenge
Testing the unborn - 100
Name the procedure that uses
a needle to withdraw fluid from
the womb to acquire cells that
can be used for a karyotype. .
Amniocentesis
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Testing the unborn - 200
Name an invasive procedure that can
be done between the 4th and 9th week of
gestation to acquire cells for a
karyotype.
Chorionic villus sampling.
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Testing the unborn - 300
• Identify the gender
of this patient.
Answer: Male, XY
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Testing the unborn - 400
List three
characteristics of
DNA that are used
to create a
karyotype
Answer:
Length of chromosome
Centromere location
Banding patterns
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Chromosomal disease- 100
Provide the notation
and its meaning for this
karyotype.
Answer: 45 X0
Missing an X
chromosome, Turner
syndrome
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Chromosomal disease- 200
Provide the
notation and its
meaning for this
karyotype.
Answer:
47 XXY
An extra X chromosome,
Klinefelter Syndrome
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Chromosomal disease- 300
Provide the notation
and its meaning for
this karyotype
Answer:
47 XX 21+
Female with Down
Syndrome
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Chromosomal disease- 400
Describe the biological
process that results in trisomy
21.
Answer:
When a new cell is forming the chromosomes do not
split equally. A new cell may have 22 or 24
chromosomes. When it pairs with a gamete that has
the correct haploid number an aneuploidy situation is
created.
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Genetic Disease - 100
Explain the
pattern of
inheritance
associated with
this pedigree.
Answer:
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Autosomal dominant.
Parents can be
heterozygous.
Genetic Disease -200
Name a disease that is autosomal
recessive.
Cystic fibrosis
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Genetic Disease - 300
How does Huntington’s disease affect a
person?
Answer: It is a brain disorder that affects their ability to
talk, think, and move.
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Genetic Disease - 400
• How can Cystic fibrosis be treated using
gene therapy?
Answer: Healthy genes are inserted into
the lungs cells. They replace the
unhealthy genes.
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The Challenge - 500
If a person has one allele for a disease
does it mean that they have symptoms
of the disease?
It depends. If it is an autosomal
dominant disease then yes. But if it is
a recessive disease then no.
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