Deck 2: Genes and Genetic Diseases

Question 1

After a geneticist talks to a patient about being a chromosomal mosaic, the patient asks the nurse what that means.How should the nurse respond? You may _____ genetic disease(s).

A) only be a carrier of the
B) have a mild form of the
C) have two
D) be sterile as a result of the

Answer 1

have a mild form of the

Question 2

Which of the following mutations have the most significant effect on protein synthesis?

A) Base pair substitutions
B) Silent mutations
C) Intron mutations
D) Frameshift mutations

Answer 2

Frameshift mutations

Question 3

A 20-year-old pregnant female gives birth to a stillborn child.Autopsy reveals that the fetus has 92 chromosomes.What term may be on the autopsy report to describe this condition?

A) Biploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy

Answer 3

Tetraploidy

Question 4

A child is diagnosed with cystic fibrosis.History reveals that the child's parents are siblings.Cystic fibrosis was most likely the result of:

A) X-inactivation.
B) genomic imprinting.
C) consanguinity.
D) obligate carriers.

Question 5

A patient wants to know the risk factors for Down syndrome.What is the nurse's best response?

A) Fetal exposure to mutagens in the uterus
B) Increased paternal age
C) Family history of Down syndrome
D) Pregnancy in women over age 35

Question 6

What is the result of homologous chromosomes failing to separate during meiosis?

A) Neurofibromatosis
B) Nondisjunction
C) Polyploidy
D) Conjoined twins

Question 7

What is the most common cause of Down syndrome?

A) Paternal nondisjunction
B) Maternal translocations
C) Maternal nondisjunction
D) Paternal translocations

Question 8

The base components of DNA are:

A) A, G, C, and U.
B) P, G, C, and T.
C) A, G, C, and T.
D) X, XX, XY, and YY.

Question 9

A cell that does not contain a multiple of 23 chromosomes is called a _____ cell.

A) diploid
B) euploid
C) polyploid
D) haploid

Question 10

What genetic disorder is the result if an individual possesses an XXY chromosome configuration?

A) Turner
B) Klinefelter
C) Down
D) Fragile X

Question 11

A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present.What medical diagnosis will the nurse observe on the chart?

A) Down syndrome
B) Cri du chat syndrome
C) Turner syndrome
D) Fragile X syndrome

Question 12

Cystic fibrosis is caused by what gene abnormality?

A) X-linked dominant
B) X-linked recessive
C) Autosomal dominant
D) Autosomal recessive

Question 13

A patient demonstrates severe mental retardation caused by a deletion of part of chromosome 5.What genetic disorder will the nurse see documented in the chart?

A) Prader-Willi syndrome
B) Down syndrome
C) Cri du chat syndrome
D) Trisomy X

Question 14

A nurse recalls the basic components of DNA are:

A) pentose sugars and four phosphate bases.
B) a phosphate molecule, deoxyribose, and four nitrogenous bases.
C) adenine, guanine, and purine.
D) codons, oxygen, and cytosine.

Question 15

The condition in which an extra portion of a chromosome is present in each cell is called:

A) reciprocal translocation.
B) partial trisomy.
C) inversion.
D) Down syndrome.

Question 16

An aide asks the nurse why people who have neurofibromatosis will show varying degrees of the disease.Which genetic principle should the nurse explain to the aide?

A) Penetrance
B) Expressivity
C) Dominance
D) Recessiveness

Question 17

A DNA strand has a region with the sequence ATCGGAT.Which of the following would be a complementary strand?

A) CGATACGT
B) TAGCCTAG
C) TUGCCTUG
D) UAGCCUAG

Question 18

A 15-year-old female is diagnosed with Prader-Willi syndrome.This condition is an example of:

A) genomic imprinting.
B) an autosomal recessive trait.
C) an autosomal dominant trait.
D) a sex-linked trait.

Question 19

A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy.When planning care, the nurse recalls the patient inherited this condition through a trait that is:

A) X-linked dominant.
B) X-influenced.
C) X-limited.
D) X-linked recessive.

Question 20

A biologist is explaining how RNA directs the synthesis of protein.Which process is the biologist describing?

A) Termination
B) Transcription
C) Translocation
D) Translation

Question 21

What type of mutation does not change the amino acid sequence and thus has no observable consequence?

A) Frameshift
B) Spontaneous
C) Silent
D) Missense

Question 22

The regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called:

A) promoter sites.
B) introns.
C) exons.
D) anticodon.

Question 23

What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present? Her features include a short stature, widely spaced nipples, and a reduced carrying angle at the elbow.

A) Down syndrome
B) Cri du chat syndrome
C) Turner syndrome
D) Klinefelter syndrome

Question 24

A 50-year-old male was recently diagnosed with Huntington disease.Transmission of this disease is associated with:

A) penetrance of a trait.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.

Question 25

A nurse is reviewing the pedigree chart.When checking for a proband, what is the nurse looking for?

A) The person who is first diagnosed with a genetic disease.
B) The individual who has a disease gene but is phenotypically normal.
C) The phenotype of genetic material.
D) The codominance.

Question 26

To express a polygenic trait:

A) genes must interact with the environment.
B) several genes must act together.
C) multiple mutations must occur in the same family.
D) penetrance must occur.

Question 27

When the nurse is teaching the staff about X-linked recessive disorders, which information should the nurse include? (Select all that apply.)

A) The trait is seen much more often in females than in males.
B) The trait is never transmitted from father to son.
C) The gene can be transmitted through a series of carrier females.
D) The gene is passed from an affected father to all his daughters.
E) The trait never skips generations.

Question 28

Which of the following disorders is manifested primarily in males?

A) Cystic fibrosis
B) Neurofibromatosis
C) Muscular dystrophy
D) Klinefelter syndrome

Question 29

A 12-year-old male is diagnosed with Klinefelter syndrome.His karyotype would reveal which of the following?

A) XY
B) XX
C) XYY
D) XXY

Question 30

The gradual increase in height among the human population over the past 100 years is an example of:

A) a polygenic trait.
B) a multifactorial trait.
C) crossing over.
D) recombination.

Question 31

When discussing DNA replication, which enzyme is most important?

A) RNA polymerase
B) Transfer RNA
C) Messenger RNA
D) DNA polymerase