Numerical Abnormalities in Genetics
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Questions and Answers

What is the definition of euploidy?

  • Cell with more than 46 chromosomes
  • Cell with fewer than 46 chromosomes
  • Normal number of structurally normal chromosomes (correct)
  • Cell with an abnormal number of chromosomes
  • Aneuploidy is defined as any abnormal number of chromosomes that is a multiple of the haploid number.

    False

    What are the two ways that polyploidy can occur?

    Nondisjunction and genome duplication

    What is hypodiploidy?

    <p>Cells with fewer than 46 chromosomes</p> Signup and view all the answers

    Which of the following conditions is associated with trisomy?

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

    Monosomy is characterized by the presence of an extra chromosome.

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

    What is the chromosome count in Turner Syndrome?

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

    What is high hyperdiploidy?

    <p>Cells with more than 50 chromosomes</p> Signup and view all the answers

    The condition known as __________ is associated with the absence of a single chromosome.

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

    What is aneuploidy?

    <p>Any abnormal number of chromosomes that is not a multiple of the haploid number</p> Signup and view all the answers

    Hyperdiploid cells have more than 46 chromosomes.

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

    What is the cause of polyploidy?

    <p>Nondisjunction and genome duplication</p> Signup and view all the answers

    Down syndrome is caused by _____ of chromosome 21.

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

    Which of the following is a result of nondisjunction?

    <p>Turner syndrome</p> Signup and view all the answers

    What is the chromosome count in Turner syndrome?

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

    Match the following terms with their definitions:

    <p>Euploidy = Normal number of structurally normal chromosomes Hypodiploid = Cell with fewer than 46 chromosomes Near Haploid = Cells have 23 up to approximately 34 chromosomes High Hyperdiploidy = Chromosome number of more than 50</p> Signup and view all the answers

    Study Notes

    Euploidy

    • Refers to a cell or organism with a complete set of chromosomes.
    • Each chromosome is present in the correct number.

    Aneuploidy

    • Abnormality in the number of chromosomes present in a cell.
    • Characterized by a chromosome count that is not a multiple of the haploid number.

    Polyploidy

    • A type of aneuploidy where the number of chromosomes present in a cell is a multiple of the haploid number.
    • Can occur through two ways:
      • Endoreduplication: duplication of chromosomes without cell division.
      • Polyspermy: fertilization of an egg by multiple sperm.

    Hypodiploidy

    • Refers to a condition where a cell has fewer chromosomes than the normal diploid number.
    • A specific type of aneuploidy.

    Trisomy

    • A type of aneuploidy that occurs when a cell has an extra copy of one chromosome.
    • This leads to a total of three copies of the chromosome.
    • Can be associated with specific conditions like Down Syndrome (trisomy 21).

    Monosomy

    • Characterized by the loss of one chromosome from a pair.
    • Results in the cell having only one copy of a particular chromosome.
    • Not associated with an extra chromosome.

    Turner Syndrome

    • A genetic condition that occurs in females.
    • Characterized by the presence of only one X chromosome.
    • Has a chromosome count of 45, instead of the normal 46.

    High Hyperdiploidy

    • A specific type of aneuploidy found in certain cancers.
    • Characterized by the abnormal presence of extra chromosomes.
    • A higher than usual multiple of the haploid number.

    Monosomy

    • The condition associated with the absence of a single chromosome.
    • A type of aneuploidy.

    Numerical Abnormalities

    • Defects involving abnormality in the number of chromosomes.
    • Subclassified as Aneuploidy and Polyploidy

    Aneuploidy

    • Any abnormal number of chromosomes that is not a multiple of the haploid number (23 chromosomes).
    • Results from nondisjunction, the failure of chromosomes to separate normally during cell division (meiosis/gametes).
    • Two types:
      • Trisomy: Presence of an extra chromosome. Example: Down Syndrome (Trisomy 21).
      • Monosomy: Absence of a single chromosome. Example: Turner's Syndrome (Monosomy 45, X0).

    Polyploidy

    • Chromosome number higher than 46.
    • Always an exact multiple of the haploid number.

    Causes of Polyploidy

    • Two ways:
      • Nondisjunction: Failure of chromosomes to separate correctly during cell division.
        • Meiotic Nondisjunction: Occurs during meiosis, resulting in gametes with abnormal chromosome numbers.
        • Mitotic Nondisjunction: Occurs during mitosis in early embryonic development, resulting in cells with abnormal chromosome numbers.
      • Genome Duplication: The organism inherits two copies of each chromosome.

    Euploidy

    • "True" number of sets of chromosomes.
    • Normal number of structurally normal chromosomes.

    Hypodiploidy

    • Cells with fewer than 46 chromosomes.

    Near Haploid

    • Cells have between 23 and approximately 34 chromosomes.

    Hyperdiploidy

    • Cells have more than 46 chromosomes.

    High Hyperdiploidy

    • Chromosome number of more than 50.

    Disease Associations

    • Infertility and Sterility: Inability to become pregnant or conceive a child.
    • Intersex Conditions: Individuals born with both male and female biological traits.
    • Multiple Congenital Malformations: Birth defects involving the development of organs and other body parts.

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    Description

    Explore the concepts of numerical abnormalities in genetics, focusing on aneuploidy and polyploidy. Learn about their causes, implications, and examples such as Trisomy and Monosomy. This quiz will deepen your understanding of chromosome behavior during cell division.

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