Loeffler & Hart: Introduction to Human Disease, Sixth Edition
Chapter 7 – Test Bank
Multiple Choice
1. Duplication, deletion, or translocation occurring in the first or second cell division after
fertilization results in which of the following:
A.
B.
C.
D.
Mosaicism
Mutation
Nonpenetrance
Monosomy
Ans: A
2. The embryonic development period lasts from:
A.
B.
C.
D.
The time from fertilization to birth
The last month of intrauterine development
The first eight weeks after fertilization
The period of the eighth week after fertilization to birth
Ans: C
3. All of the following are embryonic anomalies except:
A.
B.
C.
D.
Congenital heart defects
Tracheal-Esophageal Fistula
Meningomyelocele
Fetal Alcohol Syndrome
Ans: D
4. If a pregnant women has abnormal levels of alpha fetoprotein, human chorionic
gonadotropin, estriol, or inhibin-A, it is possible the fetus she is carrying has which of the
following defects:
A.
B.
C.
D.
Down syndrome
Meningomnyelocele
Trisomy 18
Tracheal-esophageal fistula
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Loeffler & Hart: Introduction to Human Disease, Sixth Edition
Chapter 7 – Test Bank
Ans: D
5. Variants of a single gene are called
A. Mutations
B. Mosaics
C. Alleles
D. Homozygotes
E. Heterozygotes
Ans: C
6. Nonpenetrance refers to
A. Variable expressivity
B. Lack of expression of a recessive allele because it is inhibited by a dominant one
C. Inability of a sperm to fertilize an ovum
D. Formation of a Barr body
E. Lack of expression of a dominant allele
Ans: E
7. Conditions caused by abnormal chromosomal copy number
A. are called genetic diseases
B. are caused by teratogens
C. are familial
D. usually affect more than one organ
E. are the same as complex gene defects
Ans: D
8. Which of the following statements about genetic diseases is true?
A. They are always present in other family members
B. They are always manifest at birth
C. They are always due to abnormalities in a single gene
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Loeffler & Hart: Introduction to Human Disease, Sixth Edition
Chapter 7 – Test Bank
D. Females never demonstrate X-linked disorders such as hemophilia
E. They are always caused by altered nucleic acid sequences
Ans: E
9. Which of the following agents is not a known teratogen?
A. Alcohol
B. Rubella virus
C. Maternal iodine deficiency
D. Thalidomide
E. Folate
Ans: E
10. Diseases of childhood and adolescence differ from those of infancy in that
A. Accidents are more common in infancy
B. Genetic and chromosomal diseases are usually not detected until childhood and
adolescence
C. The effects of congenital disorders, prematurity and an adverse intrauterine
environment are more common causes of diseases in infancy
D. Neoplastic disease is more common in infancy
E. Children are more susceptible to infectious diseases because infants are protected by
maternal antibodies
Ans: C
11. Which of the following tests are not commonly done at birth to detect congenital
diseases?
A. Blood test for phenylketonuria
B. Blood test for sickle cell anemia
C. Physical examination
D. Triple-screen test for Down syndrome
E. Blood test for congenital hypothyroidism
Ans: D
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Loeffler & Hart: Introduction to Human Disease, Sixth Edition
Chapter 7 – Test Bank
True/False
12. An example of a sex-linked recessive disorder is cystic fibrosis.
Ans: False
13. Abnormal genes causing recessive diseases can be transmitted through many generations
before causing disease.
Ans: True
14. An example of an autosomal dominant disease is Duchenne Muscular dystrophy.
Ans: False
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