Deck 2: Genes and Genetic Diseases

Question 1

A couple has three offspring: one child with an autosomal dominant disease trait and two who are normal.The father is affected by the autosomal dominant disease,but the mother does not have the disease gene.What is the recurrence risk of this autosomal dominant disease for their next child?

A) 50%
B) 33%
C) 25%
D) Impossible to determine

Answer 1

50%

Question 2

A patient has 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

Answer 2

Cri du chat syndrome

Question 3

The nurse is teaching staff about the most common cause of Down syndrome.What is the nurse describing?

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

Answer 3

Maternal nondisjunction

Question 4

An XXY person asks the nurse what this genetic disorder is called.What is the nurse's best response? This disorder is _____ syndrome.

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

Question 5

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 6

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

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

Question 7

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 8

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

Question 9

When homologous chromosomes fail to separate during meiosis,which of the following occurs?

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

Question 10

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.

A) Sex-linked dominant
B) Sex-influenced
C) Sex-limited
D) Sex-linked recessive

Question 11

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

A) Gene imprinting
B) An autosomal recessive trait
C) An autosomal dominant trait
D) A sex-linked trait

Question 12

After a geneticist talks to the 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

Question 13

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 14

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 15

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

Question 16

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 17

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 18

When a patient asks what causes cystic fibrosis,how should the nurse respond? Cystic fibrosis is caused by an _____ gene.

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

Question 19

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 20

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 21

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,reduced carrying angle at the elbow,and sparse body hair.

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

Question 22

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 23

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 24

A normal male and a female carrier for red-green color blindness mate.Given that red-green color blindness is an X-linked recessive trait,what is the likelihood of their children being affected?

A) 25%
B) 50%
C) Females most affected; no males affected
D) Males most affected; no females affected

Question 25

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 26

A 5-year-old male presents with mental retardation and is diagnosed with fragile X syndrome.When the parents ask what caused this,how should the geneticist respond? This was most probably caused from:

A) Translocation
B) Inversion
C) Nondisjunction
D) Duplication at fragile sites

Question 27

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 28

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

A) Penetrance
B) Recurrence risk
C) Expressivity
D) Delayed age of onset

Question 29

Mutations that do not change the amino acid sequence and thus have no consequence are termed _____ mutations.

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

Question 30

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 31

A child is born with blue eyes (bb).The child's mother has blue eyes and the father has brown eyes.Which of the following represents the father?

A) Bb.
B) Bb
C) BB
D) Bbb

Question 32

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 33

When discussing DNA replication,which enzyme is most important?

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

Question 34

Which of the following disorders is manifested primarily in males?

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

Question 35

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