Download 1 Pathophysiology Name Homework for Introduction to

PATHOPHYSIOLOGY
Name
Homework for Introduction to Pathophysiology Terms
and Chapter 2 - Genes and Genetic Diseases
Instructions:
 The first three questions are from the “Introduction to Pathophysiology Terms” in Lecture #1.
 When finished, enter your answers on the electronic version of the homework posted on Canvas.
 You may do this as many times as you want until you are happy with your grade.
1.
A person with high blood pressure can develop renal problems and enlargement of the left
ventricle. These effects can best be described as the ____ of high blood pressure.
A. signs
B. differential diagnosis
C. sequelae
D. etiology
2.
All of the following would be considered symptoms (rather than signs) EXCEPT:
A. cough
B. sensitivity to light
C. hot flashes
D. acidosis
3.
A patient with multiple sclerosis can expect a shortened life expectancy and may experience
progressive paralysis. This statement is best described as the _____.
A. prognosis
B. etiology
C. differential diagnosis
D. symptoms
4.
Which of the following statements about mutations is correct?
A. Mutations always lead to genetic disease.
B. Spontaneous mutations occur as a result of exposure to a mutagen.
C. Mutations are alterations in normal DNA sequence.
D. Mutations are always inherited.
5.
Which of the following mutations would be most likely to impair production of a normally
functioning protein?
A. insertion of three bases in a row
B. deletion of a single base
C. a point mutation within an intron
D. a mutation that changes a C to a G
6.
Sex chromosomes are:
A. the largest chromosomes on a karyotype
B. paired homologous chromosomes
C. present only after puberty
D. the 23rd pair of chromosomes
7.
Which of the following types of genetic disorders is the most common cause of miscarriage?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked recessive
D. Chromosomal
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8.
The condition in which a single chromosome is missing in each cell is called:
A. a haploid condition.
B. an autosomy.
C. a monosomy.
D. Down syndrome.
9.
Trisomy is a form of:
A. polyploidy.
B. aneuploidy.
C. monosomy.
D. autosomal dominant inheritance.
10. Chromosomal nondisjunction results in:
A. monosomies and trisomies.
B. chromosomal translocation.
C. broken chromosomes.
D. normal cell division.
11. Down syndrome occurs with a trisomy of which chromosome?
A. 6
B. 8
C. 14
D. 21
12. The most important risk factor for Down syndrome is:
A. increased maternal age.
B. a family history of Down syndrome.
C. fetal exposure to teratogens during pregnancy.
D. previous multiple pregnancies.
13. A person with Klinefelter syndrome has which of the following genetic abnormalities?
A. Trisomy 13
B. Trisomy 21
C. X
D. XXY
14. Which of the following aneuploidy disorders is found only in females?
A. Turner syndrome
B. Down syndrome
C. Klinefelter syndrome
D. None of the above
15. The most common genotype for Turner syndrome is:
A. X.
B. XX.
C. XXX.
D. XXXX.
16. A karyotype is:
A. a method for identifying single gene disorders.
B. the sequence of DNA in a gene.
C. an ordered photographic display of a set of chromosomes from a single cell.
D. a sequence of RNA that codes for a particular protein.
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17. Which of the following is NOT a term used to describe a process that results in abnormal
chromosomal structure?
A. Duplication
B. Freezing
C. Translocation
D. Deletion
18. Which of the following genetic disorders results in severe mental retardation caused by a
deletion of part of a chromosome?
A. Huntington disease
B. Cri du chat syndrome
C. Prader-Willi syndrome
D. Cystic fibrosis
19. The most serious problem associated with the inversion of genetic material is:
A. severe mental retardation in the affected individual.
B. physical disabilities.
C. chromosomal defects in offspring.
D. infertility.
20. The outward manifestation of a disease, often influenced by both genes and the environment, is
called the disease:
A. genotype.
B. allele.
C. phenotype.
D. dominance.
21. An individual who is heterozygous for a gene has:
A. alleles at a given locus that are different from one another.
B. alleles at a given locus that are the same.
C. alleles at different loci that are the same.
D. a recessive gene on chromosomal pairs.
22. A couple is planning to have children. The father is affected by an autosomal dominant disease,
but the mother does not have the disease gene. If the father is a heterozygote, what is the chance
that their first child will be affected by the autosomal dominant disease?
A. 100%
B. 75%
C. 50%
D. 25%
23. Which of the following is generally true of an autosomal recessive pedigree?
A. On average, 50% of the children will have the autosomal recessive disease if one parent has
the disease.
B. Males are affected more than females.
C. On average, 25% of the children are affected by the autosomal recessive disease if both
parents are carriers.
D. There is a decreased risk of disease with consanguinity.
24. A couple has two offspring; one child has an autosomal recessive disease trait and one is normal.
What conclusions can you make about the parents?
A. One parent must have the autosomal recessive disease.
B. Both parents must have the autosomal recessive disease.
C. One parent is a carrier for the autosomal recessive gene and the other parent is normal.
D. Both parents are probably carriers.
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25. Which of the following is generally true of an X-linked recessive pedigree?
A. Disease is seen more often in males than females.
B. A pattern of skipped generations is rare.
C. Males are gene carriers.
D. Mothers usually transmit the disease to their daughters.
26. Which of the following genetic diseases is transmitted through autosomal recessive inheritance?
A. Duchenne muscular dystrophy
B. Cystic fibrosis
C. Hemophilia
D. Huntington disease
Critical Thinking Questions
27. Diabetes mellitus type 2 can be common within a family, and yet no single gene has been
identified as causing the problem, although diet and exercise habits influence whether the
disease develops. This disease is probably controlled by:
A. an autosomal recessive mutation.
B. a sex linked mutation.
C. an autosomal dominant mutation.
D. multifactorial inheritance.
28. A 41-year-old pregnant female miscarries in her first trimester. A karyotype shows that the fetus
had 45 chromosomes. Which of the following describes this condition?
A. Euploidy
B. Triploidy
C. Tetraploidy
D. Aneuploidy
29. Genetic testing reveals that a woman has inherited an autosomal dominant disease gene from her
mother, and yet she does not exhibit any symptoms of the disease. Which of the following could
best explain this?
A. The disease gene has partial penetrance.
B. The disease is caused by epigenetic modifications.
C. She is a chromosomal mosaic.
D. She has Turner syndrome.
30. A healthy couple has a son with hemophilia. The couple later divorces and each remarries.
Which of the following statements is CORRECT?
A. If the father has more children with his new wife, there is a 50% chance that his daughters
will have hemophilia.
B. If the father has more children with his new wife, there is a 50% chance that his sons will
have hemophilia.
C. If the mother has more children with her new husband, there is a 50% chance that her sons
will have hemophilia.
D. If the mother has more children with her new husband, there is a 50% chance that her
daughters will have hemophilia.
31. A man with blue eyes (genotype bb) and a woman with brown eyes (genotype Bb) have a child
with blue eyes. What is the probability that their next child will also have blue eyes?
A. 25%
B. 50%
C. 75%
D. less than 50% because the first child had blue eyes