Prenatal Testing and Genetic Disorders Quiz
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Questions and Answers

What is the term for chromosomes that are classifed based on the position of the centromere?

  • Acrocentric
  • Telomeric
  • Submetacentric
  • Metacentric (correct)
  • Which enzyme maintains chromosome integrity by replacing the 5′ end of the long strand during DNA replication?

  • Ligase
  • Helicase
  • Telomerase (correct)
  • DNA polymerase
  • How many divisions can most cells undergo before becoming senescent due to a critical length of chromosomes?

  • 50 to 60 divisions (correct)
  • 40 to 50 divisions
  • 20 to 30 divisions
  • 70 to 80 divisions
  • What is the diploid number of chromosomes in humans?

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

    Which organism has 54 chromosomes?

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

    What type of chromosome has the centromere located at an intermediate position?

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

    What parameters were used by early pioneers of cytogenetics to classify individual chromosomes?

    <p>Length, position of the centromere, and presence or absence of satellites</p> Signup and view all the answers

    In which condition might a man with Klinefelter's disease go undiagnosed until puberty or adulthood?

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

    What labels were used to subdivide chromosomes into groups based on overall morphology?

    <p>A to G</p> Signup and view all the answers

    When might a genetic karyotype be done for infertility?

    <p>When the cause of infertility is unknown</p> Signup and view all the answers

    In what scenario might a woman with Turner syndrome or a man with Klinefelter's be unaware of their condition?

    <p>While coping with infertility</p> Signup and view all the answers

    Why might infants or children with certain medical conditions need karyotyping?

    <p>To identify any chromosomal abnormalities</p> Signup and view all the answers

    What is the estimated frequency of triploidy in live births?

    <p>1 in 10,000</p> Signup and view all the answers

    Why might parents undergo testing if a child is born with translocation Down syndrome?

    <p>To determine if the condition is hereditary</p> Signup and view all the answers

    What percentage of miscarriages are thought to be caused by chromosomal abnormalities like trisomy 16?

    <p>50%</p> Signup and view all the answers

    What type of leukemia may be diagnosed by looking for the Philadelphia chromosome?

    <p>Chronic myelogenous leukemia</p> Signup and view all the answers

    What is the main reason for conducting karyotype testing following a stillbirth?

    <p>To determine the cause of the stillbirth</p> Signup and view all the answers

    What is the term used for cells that have more than two sets of chromosomes?

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

    What is the most common cause of intellectual disability?

    <p>Trisomy 21</p> Signup and view all the answers

    Which chromosomal disorder has the widest phenotypic variation affecting almost every organ?

    <p>Trisomy 21</p> Signup and view all the answers

    In which type of meiosis does about 75% of maternal nondisjunctions leading to Trisomy 21 occur?

    <p>Meiosis I</p> Signup and view all the answers

    What is the most common trisomy among the ones mentioned in the text?

    <p>Trisomy 18</p> Signup and view all the answers

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

    <p>Non disjunction</p> Signup and view all the answers

    Which trisomy has a survival rate of less than 3 days after birth?

    <p>Trisomy 13 (Patau Syndrome)</p> Signup and view all the answers

    What is the main characteristic feature of Trisomy 21 on examination?

    <p>Short neck</p> Signup and view all the answers

    Which syndrome is characterized by short stature, sexual infantilism, and webbed neck?

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

    What percentage of Trisomy 21 cases have the extra chromosome contributed by the mother?

    <p>90% to 95%</p> Signup and view all the answers

    What is a common feature of Trisomy X syndrome?

    <p>Increased risk of learning disabilities</p> Signup and view all the answers

    Which syndrome results in a mild phenotype in comparison with the other syndromes mentioned?

    <p>Trisomy X</p> Signup and view all the answers

    What is a common consequence of Translocations?

    <p>Learning disabilities</p> Signup and view all the answers

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