Chromosomal Abnormalities and Down Syndrome
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Questions and Answers

What is the usual chromosome that the extra full or partial copy of chromosome 21 attaches to in translocation?

  • Chromosome 21
  • Chromosome X
  • Chromosome 14 (correct)
  • Chromosome 18
  • What is the percentage of Down syndrome cases caused by translocation?

  • 3% (correct)
  • 10%
  • 1%
  • 5%
  • How many Filipino households are caring for a family member with Down syndrome?

  • Over 500,000
  • Over 50,000
  • Over 200,000
  • Over 100,000 (correct)
  • What is the approximate frequency of Down syndrome in newborns in the Philippines?

    <p>One in 800</p> Signup and view all the answers

    What is the total number of chromosomes in the cells of individuals with translocation Down syndrome?

    <p>46</p> Signup and view all the answers

    Study Notes

    Chromosomal Abnormalities

    • Chromosomal abnormalities occur when a child inherits too many or too few chromosomes, resulting in a genetic condition due to a problem with one of the 23 pairs of chromosomes.

    Causes of Chromosomal Abnormalities

    • Age of the mother
    • Genetic mutations
    • Inherited abnormalities
    • Environmental factors

    Trisomy 21 (Down Syndrome)

    • Also known as Down syndrome, it is one of the most common chromosomal abnormalities.
    • Caused by abnormal cell division resulting in an extra full or partial copy of chromosome 21.
    • Characterized by intellectual disability and physical features such as short fingers and toes, folds of skin over the eyes, and a protruding tongue.

    Prevalence of Down Syndrome

    • In Illinois, there is a prevalence of Down syndrome (refer to Table 2.2).
    • In the Philippines, Down syndrome affects approximately one in every 800 newborns, with over 100,000 Filipino households caring for a family member with this condition.

    Types of Down Syndrome

    • Trisomy 21 (Nondisjunction): an error in cell division resulting in an embryo with three copies of chromosome 21 instead of the usual two.
    • Mosaicism: a mixture of two types of cells, some containing 46 chromosomes and some containing 47, with an extra chromosome 21.
    • Translocation: the total number of chromosomes remains 46, but an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14.

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    Description

    Learn about chromosomal abnormalities, their causes, and Trisomy 21, also known as Down syndrome, a common genetic condition caused by abnormal cell division.

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