Chromosomal Abnormalities and Birth Defects
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Questions and Answers

What is the approximate incidence of Klinefelter syndrome in males?

  • 1 in 200
  • 1 in 500 (correct)
  • 1 in 1000
  • 1 in 100

    • What is the most common causative event of Klinefelter syndrome?

  • Nondisjunction of the YY homologues
  • Nondisjunction of the XX homologues (correct)
  • Mitotic nondisjunction resulting in mosaicism
  • Structural abnormalities of the X chromosome

    • What is the characteristic feature of Turner syndrome?

  • Tall stature and absence of ovaries
  • Short stature and absence of ovaries (correct)
  • Mental retardation and absence of ovaries
  • Webbed neck and presence of ovaries

    • What is the percentage of affected women who are monosomic for the X and chromatin body negative?

    <p>55%</p> Signup and view all the answers

    What is the cause of breaks in chromosomes that can lead to structural abnormalities?

    <p>Radiation and environmental factors</p> Signup and view all the answers

    What is the fate of most fetuses with Turner syndrome?

    <p>They are spontaneously aborted</p> Signup and view all the answers

    What is the percentage of conceptuses that have major chromosomal abnormalities?

    <p>25%</p> Signup and view all the answers

    What is the term for the phenomenon where some cells of an embryo have a normal number of chromosomes and others have an abnormal number?

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

    During meiosis, what is the result of nondisjunction in one cell?

    <p>One cell with 24 chromosomes and the other with 22 chromosomes</p> Signup and view all the answers

    What is the term for a chromosome number that is not an exact multiple of n?

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

    What is the result of a translocation where no critical material is lost?

    <p>Balanced translocation</p> Signup and view all the answers

    At what age do the frequency of nondisjunction in women particularly increase?

    <p>35 years</p> Signup and view all the answers

    What is the result of partial deletion of the short arm of chromosome 5?

    <p>Cri-du-chat syndrome</p> Signup and view all the answers

    What percentage of human malformations are estimated to be caused by single gene mutations?

    <p>8%</p> Signup and view all the answers

    What is the term for a mutation that requires two abnormal alleles to produce an abnormality?

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

    What is the result of a microdeletion of the long arm of chromosome 15?

    <p>Microdeletion of long arm of chromosome 15 (15q11-15q13)</p> Signup and view all the answers

    What type of mutation can result in inborn errors of metabolism?

    <p>Gene mutation</p> Signup and view all the answers

    What is the term for a mutation that can produce an abnormality in a single dose?

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

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