Genetics & Cell Injury – Clinical Pathophysiology Part 1

An ordered photographic display of a set of chromosomes from a single cell is a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.

An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.

A somatic cell that does not contain a multiple of 23 chromosomes is called:
A) an aneuploid cell.
B) a euploid cell.
C) a polyploidy cell.
D) a haploid cell.

A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. Which of the following describes this condition?
A) Euploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy

If a person is a chromosomal mosaic, the person may:
A) be a carrier of the genetic disease.
B) have a mild form of the genetic disease.
C) have two genetic diseases.
D) be sterile as a result of the genetic disease.

The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.

Risk factors for Down syndrome include:
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.

A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. Her condition is called:
A) Down syndrome.
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome

A child is diagnosed with cystic fibrosis. History reveals that the child's parents are first cousins. Cystic fibrosis was most likely the result of:
A) X inactivation.
B) genomic imprinting.
C) consanguinity.
D) obligate carriers.

Joey, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. He inherited this condition through a:
A) sex-linked dominant trait.
B) sex-influenced trait.
C) sex-limited trait.
D) sex-linked recessive trait.

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.

People who have neurofibromatosis will show varying degrees of the disease; this is because of the genetic principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.

Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive

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) in situ cloning must occur.

The gradual increase in height among the human population over the past 100 years is an example of:
A) polygenic trait.
B) multifactorial trait.
C) crossing over.
D) recombination.

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

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

A 5-year-old male presents with mental retardation and is diagnosed with Fragile X syndrome. Which of the following is most likely to cause this syndrome?
A) Translocation
B) Inversion
C) Nondisjunction
D) Duplication at fragile sites

The outward manifestation of a disease, often influenced by both genes and the environment, is called the disease:
A) genotype.
B) allele.
C) phenotype.
D) dominance.

Which of the following genetic diseases manifests with progressive dementia in middle to later adulthood?
A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Achondroplasia
D) Huntington disease

Which of the following types of genetic disorders is the most common cause of miscarriage?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Chromosomal

Which of the following is an accurate characteristic of an autosomal recessive pedigree?
A) On average, 50% of the children will have the autosomal recessive disease if one parent has the disease.
B) Males are affected more than females.
C) On average, 25% of the children are affected by the autosomal recessive disease if both parents are carriers.
D) There is a decreased risk of disease with consanguinity.

Which of the following is an accurate characterization of an X-linked recessive pedigree?
A) Disease is seen more often in males than females.
B) A pattern of skipped generations is rare.
C) Males are gene carriers.
D) Mothers usually transmit the disease to their daughters.

The process by which RNA directs the synthesis of protein is called:
A) termination.
B) transcription.
C) promotion.
D) translation.

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.

Adaptive cellular mechanisms function to:
A) treat disease.
B) protect cells from injury.
C) prevent cellular aging.
D) speed up cellular death.

Cellular atrophy involves:
A) an increase in cell size.
B) a decrease in cell size.
C) an increase in the number of cells.
D) a decrease in the number of cells.

The process of cellular atrophy is accomplished through which of the following processes?
A) Loss of fluid
B) Decreased cell division
C) Inhibition of enzyme formation
D) Formation of autophagic vacuoles

In compensatory hyperplasia, growth factors stimulate cell division in response to:
A) tissue loss.
B) decreased hormonal stimulation.
C) ischemia.
D) puberty.

Pathologic hyperplasia can lead to:
A) neoplasia (cancer).
B) dysplasia.
C) metaplasia.
D) all of the above.

In response to an increased workload, such as that caused by high blood pressure (hypertension), myocardial cells in the left ventricle will adapt through the process of:
A) atrophy.
B) hypertrophy.
C) hyperplasia.
D) dsyplasia.

The process of muscle hypertrophy involves an increase in:
A) cell division.
B) water accumulation.
C) protein synthesis.
D) plasma membrane thickness.

Chronic infection of the cervix by the human papillomavirus results in cervical:
A) atrophy.
B) dysplasia.
C) metaplasia.
D) hormonal hyperplasia.

Metaplasia involves the replacement of normal cells by:
A) another type of cell.
B) abnormal cells of the same tissue type.
C) scar tissue.
D) cancer cells.

The most common cause of hypoxic injury is:
A) free radicals.
B) malnutrition.
C) chemical toxicity.
D) ischemia.

Tissue ischemia and a decrease in mitochondrial oxygenation result in:
A) cellular dehydration.
B) decreased ATP production.
C) calcium accumulation outside the cell.
D) increased protein synthesis.

Lysosomal rupture during hypoxic injury leads to:
A) cellular acidosis.
B) sodium influx.
C) cellular adaptation.
D) autodigestion of cells.

Free radical injury can be caused by all of the following factors except:
A) tissue damage by antioxidants.
B) radiation injury.
C) tissue reperfusion following ischemia.
D) enzymatic metabolism of chemicals.

Vitamin E, vitamin C, and beta-carotene are molecules in food that act as:
A) poisons.
B) free radicals.
C) receptor blockers.
D) antioxidants.

Lead poisoning affects nervous system function by which of the following mechanisms?
A) Lead blocks oxygen delivery to the brain by binding with hemoglobin.
B) Lead interferes with neurotransmitter release.
C) Lead causes nervous tissue necrosis.
D) Lead inhibits fatty acid oxidation in the brainstem.

The population group most vulnerable to lead poisoning is:
A) children.
B) pregnant women.
C) male adolescents.
D) the elderly.

Which of the following organs is most frequently affected by ethanol injury?
A) Heart
B) Kidneys
C) Liver
D) Stomach

Which of the following molecules accumulates in liver cells as a result of alcohol abuse?
A) Water
B) Fat (lipids)
C) Protein
D) Iron

Fetal exposure to alcohol during pregnancy can result in:
A) low birth weight.
B) mental retardation.
C) death.
D) all of the above.

Why is carbon monoxide exposure a life-threatening condition?
A) Carbon monoxide binds to hemoglobin and prevents normal oxygen transport to tissues.
B) Inhalation of carbon monoxide interferes with oxygen diffusion in the lungs.
C) Carbon monoxide causes the release of toxic amounts of iron from the tissues.
D) Carbon dioxide removal from the tissues is inhibited.

A contusion injury results in:
A) tearing of the skin.
B) the removal of superficial skin layers.
C) entrance and exit wounds.
D) bleeding in the skin or underlying tissues.

What are the primary factors contributing to oncosis from hypoxic injury?
A) Decrease in ATP production and sodium movement into the cell
B) Injury to the endoplasmic reticulum and Golgi apparatus
C) Increase in ATP production and potassium movement out of the cell
D) Accumulation of lipids and pigments in the cell

Liquefactive necrosis typically occurs after severe hypoxic injury to which of the following organs?
A) Brain
B) Heart
C) Adrenals
D) Pancreas

The process by which cells program themselves to die is called:
A) karyolysis.
B) apoptosis.
C) pyknosis.
D) necrosis.

Osmosis describes the movement of:
A) electrolytes.
B) glucose.
C) water.
D) blood.

Which of the following electrolytes is found in the highest concentrations in the intracellular fluid (ICF)?
A) Sodium
B) Calcium
C) Magnesium
D) Potassium

Capillary oncotic pressure is primarily determined by which of the following molecules?
A) Glucose
B) Sodium
C) Albumin
D) Water

Edema can result from all of the following alterations except:
A) decreased capillary hydrostatic pressure.
B) decreased capillary oncotic pressure.
C) lymphatic obstruction.
D) increased capillary membrane permeability.

Symptoms of dehydration include:
A) decreased urine output.
B) increased skin turgor.
C) increased blood pressure.
D) edema.

What is the purpose of vasodilatation and increased vascular permeability during inflammation?
A) To bring white blood cells to the area of injury
B) To transport inflammatory chemicals to the area of injury
C) To dilute toxins
D) All of the above

The first cell to react to tissue injury is the:
A) macrophage.
B) mast cell.
C) fibroblast.
D) neutrophil

Which of the following stimuli are known to induce mast cell degranulation?
A) Thermal injury
B) The presence of toxins
C) Immunologic tissue injury
D) All of the above

The process of a phagocyte squeezing through retracted endothelial cells to enter into the tissues is called:
A) fusion.
B) diapedesis.
C) phagocytosis.
D) margination.

Prior to engulfment of a bacterium during phagocytosis, which of the following events must occur?
A) Release of lysosomal enzymes
B) Fusion
C) Recognition and adherence
D) Formation of a phagolysosome

In addition to phagocytosis, which of the following functions are also performed by macrophages?
A) Release of growth factors and stimulating new blood vessel growth
B) Destroying circulating antibodies
C) Inhibiting inflammation
D) Promotion of blood clotting

A monocyte is a circulating white blood cell that transforms into which of the following cells once it enters the tissue during an inflammatory response?
A) Neutrophil
B) Macrophage
C) Mast cell
D) Fibroblast

Cells defend against viral invasion through the production and secretion of:
A) histamine.
B) interferon.
C) growth factors.
D) prostaglandins.

Opsonization promotes the process of:
A) phagocytosis.
B) vasodilation.
C) increased vascular permeability.
D) clotting.

Warmth and redness of the skin are indicators of inflammation. Which of the following processes is responsible for this clinical manifestation?
A) Increased vascular permeability
B) Phagocytosis
C) Vasoconstriction
D) Vasodilation

Which of the following exudates would be present in highest concentration at the site of a persistent bacterial infection?
A) Fibrinous
B) Serous
C) Hemorrhagic
D) Purulent

One systemic manifestation of the acute inflammatory response is fever, which is induced by several mediators, including:
A) histamine.
B) interferon.
C) interleukin 1.
D) nitrous oxide.

Which of the following cells plays an active role in collagen deposition during wound contraction and scar tissue formation?
A) Mast cell
B) Macrophage
C) Fibroblast
D) Osteocyte

If the surface barriers such as the skin or mucus membranes are breached, the second line of defense in innate immunity is the:
A) lymph node.
B) lymphocyte response.
C) inflammatory response.
D) memory cells.

If a person has innate resistance to a disease, the person has _____ immunity.
A) natural
B) native
C) active acquired
D) passive

A child fell off the swing and scraped her knee. The injured area becomes red and painful. Which of the following would also occur?
A) Vasoconstriction
B) Decreased RBC concentration at injured site
C) Fluid movement from tissue to vessels
D) Edema at injured site

The mast cell, a major activator of inflammation, initiates the inflammatory response through the process of:
A) cytokinesis.
B) endocytosis.
C) degranulation.
D) hemolysis.

A 13-year-old female fell on her knee while skating. The area became inflamed and sore to touch. Which of the following would result from activation of the plasma system secondary to her injury?
A) Mast cell degranulation
B) Release of cellular products
C) Cellular infiltration
D) Pathogenic invasion

A 35-year-old male is diagnosed with lobar pneumonia (lung infection). Which of the following exudates would be present in highest concentration at the site of this advanced inflammatory response?
A) Serous
B) Purulent
C) Hemorrhagic
D) Fibrinous

In contrast with the inflammatory response, the immune response:
A) is more effective at fighting microorganisms.
B) is faster.
C) recognizes specific invaders.
D) has no memory.

The primary cell of immunity is the:
A) mast cell.
B) macrophage.
C) neutrophil.
D) lymphocyte.

Humoral immunity is generated through the process of:
A) direct cell lysis.
B) stimulating an inflammatory response.
C) producing antibodies.
D) secreting toxic molecules.

If a person has resistance to a disease from natural exposure to an antigen, the person has which form of immunity?
A) Natural
B) Innate
C) Passive acquired
D) Active naturally acquired

Molecules that are capable of inducing an immune response are called:
A) lymphocytes.
B) haptens.
C) antigens.
D) antibodies.

Which of the following is an example of an endogenous antigen?
A) Poison ivy
B) Injected medications
C) Pollen
D) The body's own tissue

The condition in which the immune cells attack the individual's own tissues as if they were invaders is called:
A) alloimmunity.
B) autoimmunity.
C) hypersensitivity.
D) graft rejection.