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 (C)</p> Signup and view all the answers

Which organism has 54 chromosomes?

<p>Sheep (C)</p> Signup and view all the answers

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

<p>Submetacentric (D)</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 (D)</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 (A)</p> Signup and view all the answers

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

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

When might a genetic karyotype be done for infertility?

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

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

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

What is the estimated frequency of triploidy in live births?

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

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

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

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

<p>Chronic myelogenous leukemia (D)</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 (B)</p> Signup and view all the answers

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

<p>Polyploid (A)</p> Signup and view all the answers

What is the most common cause of intellectual disability?

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

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

<p>Trisomy 21 (D)</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 (B)</p> Signup and view all the answers

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

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

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

<p>Non disjunction (B)</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) (D)</p> Signup and view all the answers

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

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

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

<p>Turner Syndrome (D)</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% (B)</p> Signup and view all the answers

What is a common feature of Trisomy X syndrome?

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

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

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

What is a common consequence of Translocations?

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

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