Question 1

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?

Accepted Answer

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

Question 2

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

Accepted Answer

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

Question 3

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

Accepted Answer

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

Question 4

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

Accepted Answer

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

Question 5

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

Accepted Answer

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

Question 6

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

Accepted Answer

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

Question 7

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

Accepted Answer

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

Question 8

A nurse recalls the basic components of DNA are:

Accepted Answer

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. 
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 9

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

Accepted Answer

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

Question 10

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

Accepted Answer

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. 
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 11

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

Accepted Answer

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

Question 12

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?

Accepted Answer

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

Question 13

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?

Accepted Answer

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

Question 14

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

Accepted Answer

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

Question 15

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

Accepted Answer

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

Question 16

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

Accepted Answer

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. 
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 17

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?

Accepted Answer

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

Question 18

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:

Accepted Answer

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

Question 19

The base components of DNA are:

Accepted Answer

A)  A, G, C, and U. 
B)  P, G, C, and T. 
C)  A, G, C, and T. 
D)  X, XX, XY, and YY. 
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 20

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

Accepted Answer

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

Exam 2: Genes and Genetic Diseases

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

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

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

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

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

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

A nurse recalls the basic components of DNA are:

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

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

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

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 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?

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

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

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

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 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:

The base components of DNA are:

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

Cellular Biology

Epigenetics and Disease

Altered Cellular and Tissue Biology

Fluids and Electrolytes, Acids and Bases

Innate Immunity: Inflammation and Wound Healing

Adaptive Immunity

Infection and Defects in Mechanisms of Defense

Stress and Disease

Biology, Clinical Manifestations, and Treatment of Cancer

Cancer Epidemiology

Cancer in Children

Structure and Function of the Neurologic System

Pain, Temperature, Sleep, and Sensory Function

Alterations in Cognitive Systems, Cerebral Hemodynamics, and Motor Function

Disorders of the Central and Peripheral Nervous Systems and the Neuromuscular Junction

Alterations of Neurologic Function in Children

Mechanisms of Hormonal Regulation

Alterations of Hormonal Regulation

Structure and Function of the Hematologic System

Alterations of Hematologic Function

Alterations of Hematologic Function in Children

Structure and Function of the Cardiovascular and Lymphatic Systems

Alterations of Cardiovascular Function

Alterations of Cardiovascular Function in Children

Structure and Function of the Pulmonary System

Alterations of Pulmonary Function

Alterations of Pulmonary Function in Children

Structure and Function of the Renal and Urologic Systems

Alterations of Renal and Urinary Tract Function

Alterations of Renal and Urinary Tract Function in Children

Structure and Function of the Reproductive Systems

Alterations of the Female Reproductive System

Alterations of the Male Reproductive System

Structure and Function of the Digestive System

Alterations of Digestive Function

Alterations of Digestive Function in Children

Structure and Function of the Musculoskeletal System

Alterations of Musculoskeletal Function

Alterations of Musculoskeletal Function in Children

Structure, Function, and Disorders of the Integument

Alterations of the Integument in Children

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