Genetic Principles and Cytogenetic Disorders
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Questions and Answers

Which field within medical genetics focuses on the diagnosis, genetic counselling, and care of patients with genetic disorders?

  • Clinical genetics (correct)
  • Molecular genetics
  • Biochemical genetics
  • Cytogenetics

    • What is the difference between genotype and phenotype?

  • Genotype and phenotype are two different terms for the same concept.
  • Genotype refers to the physical manifestation of an inherited trait or disease, while phenotype refers to the genetic makeup of a person.
  • Genotype refers to the genetic makeup of a person, while phenotype refers to the physical manifestation of an inherited trait or disease. (correct)
  • Genotype refers to the presence of genetic disorders, while phenotype refers to the absence of genetic disorders.

    • What percentage of congenital anomalies at birth are caused by chromosome abnormalities?

  • 15%
  • 3%
  • 10%
  • 0.6% (correct)

    • Which field within medical genetics focuses on the study of genetic abnormalities at the molecular level?

    <p>Molecular genetics</p> Signup and view all the answers

    What is the main role of clinical geneticists?

    <p>Providing genetic counselling</p> Signup and view all the answers

    What percentage of pediatric admissions are related to genetic disorders?

    <p>10%</p> Signup and view all the answers

    Which of the following is a common aneuploidy disorder discussed in the text?

    <p>Down Syndrome</p> Signup and view all the answers

    What is the most common cause of Trisomy 21 (Down Syndrome)?

    <p>Nondisjunction during meiosis I</p> Signup and view all the answers

    Which of the following is a characteristic feature of Down Syndrome?

    <p>Distinct facial features</p> Signup and view all the answers

    What is the genetic makeup of individuals with Turner Syndrome?

    <p>45X</p> Signup and view all the answers

    Which of the following is a clinical manifestation of Trisomy 13 (Patau Syndrome)?

    <p>Cleft palate</p> Signup and view all the answers

    What is the purpose of enhanced first trimester screening (eFTS)?

    <p>To determine the risk of specific chromosomal differences</p> Signup and view all the answers

    Which of the following services would be recommended for Aiden during childhood to ensure optimal quality of life and development?

    <p>Early intervention services</p> Signup and view all the answers

    What are some genetics web-based resources and information for families and health care providers?

    <p>OMIM</p> Signup and view all the answers

    Which of the following clinical findings is suggestive of Down syndrome in Aiden?

    <p>Elevated nasal bridge</p> Signup and view all the answers

    What is one of the challenges associated with Down syndrome that can be addressed through therapy?

    <p>Developmental delays</p> Signup and view all the answers

    What services can help support the family of a child with Down syndrome?

    <p>Support groups</p> Signup and view all the answers

    Which of the following is not a recommended service for Aiden during childhood?

    <p>Genetics counseling</p> Signup and view all the answers

    Which genetic event is the most common cause of Trisomy 21?

    <p>Non-disjunction during maternal meiosis</p> Signup and view all the answers

    What is the purpose of a screening test?

    <p>To identify individuals who may need further diagnostic testing</p> Signup and view all the answers

    What is the difference between clinical genetics and human genetics?

    <p>Clinical genetics focuses on the diagnosis, management, and counseling of individuals with genetic disorders, while human genetics focuses on the genetic basis of traits and diseases</p> Signup and view all the answers

    Who are the personnel involved in patient care in clinical genetics?

    <p>Genetic counselors, clinical geneticists, and genetic nurses</p> Signup and view all the answers

    When should patients be referred to clinical genetics?

    <p>All of the above</p> Signup and view all the answers

    What clinical findings are suggestive of Down syndrome in Aiden?

    <p>Large anterior fontanelle, depressed nasal bridge, presence of a heart murmur, and hypotonia in extremities</p> Signup and view all the answers

    Which of the following is an example of an autosomal dominant disorder?

    <p>Polycystic kidney disease</p> Signup and view all the answers

    Which of the following is an example of an autosomal recessive disorder?

    <p>Cystic fibrosis</p> Signup and view all the answers

    Which of the following ethnic backgrounds has a high carrier frequency for cystic fibrosis?

    <p>Ashkenazi Jewish</p> Signup and view all the answers

    Which of the following is an example of an X-linked inheritance disorder?

    <p>Duchenne muscular dystrophy</p> Signup and view all the answers

    Which of the following is responsible for the transmission of mitochondrial disorders?

    <p>Egg</p> Signup and view all the answers

    Which of the following is a clinical manifestation of mitochondrial multisystemic disorders?

    <p>Cognitive dysfunction</p> Signup and view all the answers

    Which of the following is NOT a step in cellular proliferation?

    <p>Apoptosis of the original cell</p> Signup and view all the answers

    What is the main cause of cell injury and cell death?

    <p>Hypoxia</p> Signup and view all the answers

    What is the purpose of cellular adaptations to stress?

    <p>To maintain cellular homeostasis</p> Signup and view all the answers

    What is the sequence of events in cell injury and cell death?

    <p>Cell injury, cellular adaptation, cell death</p> Signup and view all the answers

    What is the role of stem cells in cellular proliferation?

    <p>To differentiate into specialized cells</p> Signup and view all the answers

    Which phase of the cell cycle involves DNA synthesis?

    <p>S</p> Signup and view all the answers

    Which type of cells do not have the potential to replicate?

    <p>Cardiac muscle cells</p> Signup and view all the answers

    What are the activators involved in cell cycle regulation?

    <p>Cyclins and their associated enzymes</p> Signup and view all the answers

    What happens if CDK inhibitors are defective?

    <p>Cells with damaged or mutated DNA divide</p> Signup and view all the answers

    What are the changes in cellular metabolism associated with the Warburg effect in cancer cells?

    <p>Increased cellular uptake of glucose and glutamine, increased glycolysis, and decreased oxidative phosphorylation</p> Signup and view all the answers

    Which term refers to an increase in the size of existing cells due to an increase in synthesis of cellular protein and structural components?

    <p>Hypertrophy</p> Signup and view all the answers

    Which term refers to an increase in the number of cells caused by cell division?

    <p>Hyperplasia</p> Signup and view all the answers

    Which term refers to a process in which cells change into a different cell type due to an unsuitable long-term environment?

    <p>Metaplasia</p> Signup and view all the answers

    Which term refers to an alteration in the size, shape, and organization of the cellular components of a tissue?

    <p>Dysplasia</p> Signup and view all the answers

    Which term refers to a decrease in mass due to the shrinkage in cell size?

    <p>Atrophy</p> Signup and view all the answers

    Which type of cell injury is characterized by an increase in cell volume and a vacuolated cytoplasm?

    <p>Hydropic swelling</p> Signup and view all the answers

    What is the most common form of necrosis characterized by intense eosinophilia, pyknosis, karyorrhexis, and karyolysis?

    <p>Coagulative</p> Signup and view all the answers

    Which type of cell death occurs when irreversible cell injury occurs and adaptation can no longer compensate?

    <p>Necrosis</p> Signup and view all the answers

    What is the term used to refer to coagulative necrosis with superimposed infection and a liquefactive component?

    <p>Wet gangrene</p> Signup and view all the answers

    Which type of cell injury is linked to the intracellular accumulation of triglyceride fat within cells?

    <p>Fatty change</p> Signup and view all the answers

    Which of the following is a characteristic feature of ischemic cell injury?

    <p>Decreased ATP production</p> Signup and view all the answers

    What is the main difference between apoptosis and necrosis?

    <p>Apoptosis is a controlled process of cell death, while necrosis is an uncontrolled process</p> Signup and view all the answers

    What is the consequence of decreased oxygen during ischemia?

    <p>Acute cellular swelling</p> Signup and view all the answers

    What is the role of proteolytic enzymes in necrosis?

    <p>They induce widespread damage in the cell</p> Signup and view all the answers

    What can be measured in blood serum samples to detect tissue-specific cell injury and death?

    <p>Levels of specific enzymes and proteins</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the liver and is associated with ischemia or toxic injury?

    <p>Coagulative necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the brain and is associated with bacterial or fungal infections?

    <p>Liquefactive necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the lungs and is associated with tuberculosis or fungal infections?

    <p>Caseous necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the extremities and is associated with ischemia or bacterial infections?

    <p>Gangrenous necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the heart and is associated with ischemia or infarction?

    <p>Coagulative necrosis</p> Signup and view all the answers

    Which phase of the cell cycle involves further growth and preparation for cell division?

    <p>S</p> Signup and view all the answers

    Which type of cells exit the cell cycle permanently and do not have the potential to replicate?

    <p>Permeant cells</p> Signup and view all the answers

    Which of the following is NOT an activator involved in cell cycle regulation?

    <p>DNA repair mechanisms</p> Signup and view all the answers

    Which of the following is a characteristic feature of the Warburg effect in cancer cells?

    <p>Increased cellular uptake of glucose</p> Signup and view all the answers

    Which of the following is a characteristic feature of cellular adaptation to long-term or chronic stimuli?

    <p>Preservation of cell viability</p> Signup and view all the answers

    Which process involves the replication of DNA, synthesis of cellular constituents, and equal division of these between the original cell and the new daughter cell during mitosis?

    <p>Cellular proliferation</p> Signup and view all the answers

    What is the term used to describe an increase in the size of existing cells due to an increase in synthesis of cellular protein and structural components?

    <p>Cellular adaptation</p> Signup and view all the answers

    Which of the following is a characteristic feature of ischemic cell injury?

    <p>Decreased oxygen supply</p> Signup and view all the answers

    What is the term used to describe a decrease in the size of cells due to the shrinkage in cell size?

    <p>Cellular atrophy</p> Signup and view all the answers

    What is the main cause of cell injury and cell death?

    <p>Cellular stress</p> Signup and view all the answers

    What is the term used to describe an alteration in the size, shape, and organization of the cellular components of a tissue?

    <p>Dysplasia</p> Signup and view all the answers

    Which term refers to an increase in the size of existing cells due to an increase in synthesis of cellular protein and structural components?

    <p>Hypertrophy</p> Signup and view all the answers

    Which term refers to an increase in number of cells caused by cell division?

    <p>Hyperplasia</p> Signup and view all the answers

    Which term refers to a decrease in mass due to the shrinkage in cell size?

    <p>Atrophy</p> Signup and view all the answers

    What is the term used to describe the process in which cells change into a different cell type due to an unsuitable long-term environment?

    <p>Metaplasia</p> Signup and view all the answers

    Which of the following is a characteristic feature of apoptosis?

    <p>Chromatin condensation and fragmentation</p> Signup and view all the answers

    What is the main cause of ischemic cell injury?

    <p>Reduced levels of oxygen or absence of oxygen</p> Signup and view all the answers

    Which of the following is an example of physiological apoptosis?

    <p>During embryogenesis in shaping of fingers and toes</p> Signup and view all the answers

    What happens if ischemia or hypoxia is not relieved?

    <p>Increased intracellular calcium activates enzyme systems</p> Signup and view all the answers

    What is the purpose of apoptosis?

    <p>To switch off unneeded or damaged cells and eliminate them</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the heart and is associated with ischemia or myocardial infarction?

    <p>Coagulative necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the kidneys and is associated with infection or inflammation?

    <p>Liquefactive necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the skin and is associated with ischemia or pressure ulcers?

    <p>Gangrenous necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the lungs and is associated with tuberculosis or fungal infections?

    <p>Caseous necrosis</p> Signup and view all the answers

    Which type of necrosis occurs most frequently in the liver and is associated with ischemia or toxic injury?

    <p>Liquefactive necrosis</p> Signup and view all the answers

    Which of the following is a reversible form of cell injury characterized by an abnormal accumulation of triglycerides within cells?

    <p>Fatty Change</p> Signup and view all the answers

    Which type of necrosis is characterized by the rapid loss of tissue architecture and digestion of dead cells?

    <p>Liquefactive necrosis</p> Signup and view all the answers

    Which type of necrosis is specific to adipose (fat) tissue and is characterized by the release of enzymes that digest fat, forming chalky-white deposits?

    <p>Fat necrosis</p> Signup and view all the answers

    Which type of necrosis is soft, friable, and "cheesy" in appearance, and is characteristic of tuberculosis?

    <p>Caseous necrosis</p> Signup and view all the answers

    Which of the following is a characteristic feature of necrosis, specifically coagulative necrosis?

    <p>Intense eosinophilia of the cytoplasm</p> Signup and view all the answers

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