Genetic Principles and Cytogenetic Disorders

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

What is the difference between genotype and phenotype?

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

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

What is the main role of clinical geneticists?

What percentage of pediatric admissions are related to genetic disorders?

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

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

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

What is the genetic makeup of individuals with Turner Syndrome?

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

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

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

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

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

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

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

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

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

What is the purpose of a screening test?

What is the difference between clinical genetics and human genetics?

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

When should patients be referred to clinical genetics?

What clinical findings are suggestive of Down syndrome in Aiden?

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

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

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

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

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

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

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

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

What is the purpose of cellular adaptations to stress?

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

What is the role of stem cells in cellular proliferation?

Which phase of the cell cycle involves DNA synthesis?

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

What are the activators involved in cell cycle regulation?

What happens if CDK inhibitors are defective?

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

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

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

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

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

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

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

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

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

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

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

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

What is the main difference between apoptosis and necrosis?

What is the consequence of decreased oxygen during ischemia?

What is the role of proteolytic enzymes in necrosis?

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

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

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

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

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

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

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

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

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

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

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

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?

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?

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

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

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

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

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

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

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

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?

Which of the following is a characteristic feature of apoptosis?

What is the main cause of ischemic cell injury?

Which of the following is an example of physiological apoptosis?

What happens if ischemia or hypoxia is not relieved?

What is the purpose of apoptosis?

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

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

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

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

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

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

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

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?

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

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