Down Syndrome: Trisomy 21 Etiology
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Questions and Answers

What is the primary cause of full trisomy 21?

  • Maternal inheritance
  • Hereditary transmission
  • Paternal inheritance
  • Meiotic nondisjunction (correct)

Approximately what percentage of full trisomy 21 cases occur due to paternal nondisjunction during spermatogenesis?

  • 30%
  • 20%
  • 5% (correct)
  • 10%

What is the karyotype of a male individual with full trisomy 21?

  • 49,XY,+21
  • 47,XY,+21 (correct)
  • 48,XY,+21
  • 46,XY,+21

In translocation trisomy 21, which chromosome is most commonly attached to chromosome 21?

<p>Chromosome 14 (C)</p> Signup and view all the answers

What is the approximate percentage of cases where a balanced translocation is inherited from a parent in translocation trisomy 21?

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

What is the karyotype of an individual with a balanced Robertsonian translocation?

<p>45,XX,t(14;21) (B)</p> Signup and view all the answers

What is the result of an unbalanced Robertsonian translocation?

<p>Three copies of genetic material from chromosome 21 (A)</p> Signup and view all the answers

What is the cause of mosaic trisomy 21?

<p>Nondisjunction during mitosis (B)</p> Signup and view all the answers

What determines the phenotypic expression of mosaic trisomy 21?

<p>The ratio of healthy to trisomic cells (B)</p> Signup and view all the answers

What is the karyotype of an individual with mosaic trisomy 21?

<p>46,XX/47,XX,+21 (C)</p> Signup and view all the answers

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