Question 1

A fetus is most vulnerable to environmental teratogens during

Accepted Answer

A)   birth.
B)   conception.
C)   the first trimester.
D)   the last trimester.E) B) and D)
F) None of the above

Question 2

Results of biochemical tests indicate an infant has phenylketonuria (PKU) . The parents ask what PKU means. Correct responses would include all the following except

Accepted Answer

A)   PKU is an enzyme deficiency resulting in the inability to metabolize phenylalanine.
B)   PKU is an inborn error of metabolism.
C)   PKU results from a chromosome abnormality called nondisjunction.
D)   PKU is transmitted as an autosomal recessive disorder.E) B) and D)
F) B) and C)

Question 3

Trisomy 18 is also called Down syndrome.

Accepted Answer

A) True 
 B)False

Question 4

Match the following descriptions with the terms below (letters may be used more than once) .
-Cri du chat syndrome

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) C) and D)
F) A) and B)

Question 5

DNA mutation is a rare event because of DNA repair mechanisms.

Accepted Answer

A) True 
 B)False

Question 6

A factor associated with risk of Down syndrome is

Accepted Answer

A)   family history of heritable diseases.
B)   exposure to TORCH syndrome organisms.
C)   maternal alcohol intake.
D)   maternal age.E) None of the above
F) A) and B)

Question 7

Match the following descriptions with the terms below (letters may be used more than once) .
-Klinefelter syndrome

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) C) and D)
F) B) and D)

Question 8

Genetic diseases that follow predictable patterns of inheritance usually affect

Accepted Answer

A)   chromosomal structure.
B)   chromosomal number.
C)   single genes.
D)   sex chromosomes.E) All of the above
F) B) and C)

Question 9

Match the following descriptions with the terms below (letters may be used more than once) .
-Monosomy X

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) A) and B)
F) None of the above D

Question 10

A point mutation

Accepted Answer

A)   results from the addition or loss of one or more bases.
B)   is due to the translocation of a chromosomal segment.
C)   always produces significant dysfunction.
D)   involves the substitution of a single base pair.E) A) and B)
F) All of the above

Question 11

Match the following descriptions with the terms below (letters may be used more than once) .
-Down syndrome

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) B) and D)
F) C) and D) D

Question 12

Match the following descriptions with the terms below (letters may be used more than once) .
-Albinism

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) All of the above
F) A) and B)

Question 13

What information should parents be given about the consequences of PKU?

Accepted Answer

A)   High dietary phenylalanine may help induce enzyme production.
B)   PKU is commonly associated with other congenital anomalies.
C)   Failure to avoid phenylalanine results in progressive mental retardation.
D)   Mental retardation is inevitable.E) A) and D)
F) A) and C) C

Question 14

Males and females are affected equally by autosomal dominant gene disorders.

Accepted Answer

A) True 
 B)False

Question 15

Match the following descriptions with the terms below (letters may be used more than once) .
-Marfan syndrome

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) A) and D)
F) All of the above

Question 16

Turner syndrome and Klinefelter syndrome are examples of sex chromosome disorders.

Accepted Answer

A) True 
 B)False

Question 17

Polygenic disorders follow predictable patterns of inheritance.

Accepted Answer

A) True 
 B)False

Question 18

Match the following descriptions with the terms below (letters may be used more than once) .
-Cystic fibrosis

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) A) and B)
F) A) and C)

Question 19

Characteristics of X-linked recessive disorders include which of the following?

Accepted Answer

A)   All daughters of affected fathers are carriers.
B)   Boys and girls are equally affected.
C)   The son of a carrier mother has a 25% chance of being affected.
D)   Affected fathers transmit the gene to all of their sons.E) A) and B)
F) A) and C)

Question 20

Match the following descriptions with the terms below (letters may be used more than once) .
-Hemophilia

Accepted Answer

A)  Autosomal dominant
B)  Autosomal recessive
C)  X linked
D)  Chromosome aneuploidyE) A) and B)
F) None of the above

Exam 6: Genetic and Developmental Disorders

A fetus is most vulnerable to environmental teratogens during

Correct AnswerverifiedShow Answer

Results of biochemical tests indicate an infant has phenylketonuria (PKU) . The parents ask what PKU means. Correct responses would include all the following except

Correct AnswerverifiedShow Answer

Trisomy 18 is also called Down syndrome.

Correct AnswerverifiedShow Answer

Match the following descriptions with the terms below (letters may be used more than once) . -Cri du chat syndrome

Correct AnswerverifiedShow Answer

DNA mutation is a rare event because of DNA repair mechanisms.

Correct AnswerverifiedShow Answer

A factor associated with risk of Down syndrome is

Correct AnswerverifiedShow Answer

Match the following descriptions with the terms below (letters may be used more than once) . -Klinefelter syndrome

Correct AnswerverifiedShow Answer

Genetic diseases that follow predictable patterns of inheritance usually affect

Correct AnswerverifiedShow Answer

Match the following descriptions with the terms below (letters may be used more than once) . -Monosomy X

Correct AnswerverifiedD

A point mutation

Correct AnswerverifiedShow Answer

Match the following descriptions with the terms below (letters may be used more than once) . -Down syndrome

Correct AnswerverifiedD

Match the following descriptions with the terms below (letters may be used more than once) . -Albinism

Correct AnswerverifiedShow Answer

What information should parents be given about the consequences of PKU?

Correct AnswerverifiedC

Males and females are affected equally by autosomal dominant gene disorders.

Correct AnswerverifiedShow Answer

Match the following descriptions with the terms below (letters may be used more than once) . -Marfan syndrome

Correct AnswerverifiedShow Answer

Turner syndrome and Klinefelter syndrome are examples of sex chromosome disorders.

Correct AnswerverifiedShow Answer

Polygenic disorders follow predictable patterns of inheritance.

Correct AnswerverifiedShow Answer

Match the following descriptions with the terms below (letters may be used more than once) . -Cystic fibrosis

Correct AnswerverifiedShow Answer

Characteristics of X-linked recessive disorders include which of the following?

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Match the following descriptions with the terms below (letters may be used more than once) . -Hemophilia

Correct AnswerverifiedShow Answer

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D

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D

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C

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