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Genetic Disorders: Autosomal Dominant and Recessive
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Genetic Disorders: Autosomal Dominant and Recessive

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Questions and Answers

Which disease is associated with a child in a rocking chair?

  • Phenylketonuria (correct)
  • Sickle cell
  • Tay-Sachs
  • Thalassemia
  • What disease is depicted by a baby wearing headphones?

  • Tay-Sachs
  • Congenital deafness (correct)
  • Albinism
  • Sickle cell
  • Which disease is associated with an image showing a microscopic view of blood cells?

  • Sickle cell (correct)
  • Tay-Sachs
  • Phenylketonuria
  • Albinism
  • Which autosomal recessive disease does NOT have an image associated with it in the examples provided?

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

    Which disease is linked to an image of a child in a swing?

    <p>Tay-Sachs</p> Signup and view all the answers

    Which disease is characterized by abnormally thin and fragile bones?

    <p>Osteogenesis imperfecta</p> Signup and view all the answers

    What is the primary physical characteristic of Marfan syndrome?

    <p>Tall and lanky build</p> Signup and view all the answers

    Which autosomal dominant disease is identified by having multiple cyst-like structures in the kidneys?

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

    A physical feature of polydactyly is best described as which of the following?

    <p>Having an abnormal number of fingers or toes</p> Signup and view all the answers

    Which condition involves elevated cholesterol levels due to genetic factors?

    <p>Familial hypercholesterolemia</p> Signup and view all the answers

    Study Notes

    Autosomal Dominant Diseases

    • Marfan syndrome: Characterized by a tall, slender build with long limbs and fingers.
    • Neurofibromatosis: Multiple benign tumors (neurofibromas) on the skin, nervous system, and other organs.
    • Osteogenesis imperfecta: Fragile bones, prone to fractures, and may cause short stature.
    • Polydactyly: Presence of extra fingers or toes.
    • Polycystic kidney disease: Cysts develop in the kidneys, leading to impaired kidney function.
    • Achondroplastic Dwarfism: Characterized by short stature, disproportionately short limbs, and large head size.
    • Familial Hypercholesterolemia: High levels of cholesterol in the blood, leading to the formation of fatty deposits (plaques) in the arteries.
    • Amyotrophic Lateral Sclerosis (ALS): Progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord.

    Autosomal Recessive Diseases

    • Tay-Sachs: A rare, inherited disorder that damages the nerve cells in the brain and spinal cord, leading to progressive neurological decline beginning in infancy.
    • Thalassemia: A blood disorder in which the body produces less hemoglobin or produces hemoglobin that is abnormal. Reduced oxygen-carrying capacity.
    • Sickle cell disease: A blood disorder in which red blood cells are misshapen and break down easily, leading to pain and other complications.
    • Phenylketonuria (PKU): A genetic disorder that prevents the body from breaking down phenylalanine, an amino acid.
    • Congenital deafness: Hearing impairment present at birth.
    • Albinism: A rare genetic disorder in which there is a deficiency or absence of melanin pigment in the skin, hair, and eyes.

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    Description

    Explore the fascinating world of genetic disorders with our quiz focused on autosomal dominant and recessive diseases. Test your knowledge on conditions such as Marfan syndrome, Neurofibromatosis, and Tay-Sachs, while learning about their characteristics and implications. Perfect for students and enthusiasts in genetics or biology.

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