Down Syndrome Demystified

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Questions and Answers

What is the cause of Down Syndrome in 95% of cases?

  • Extra copy of chromosome 20
  • Extra copy of chromosome 21 (trisomy 21 (correct)
  • Mitotic nondisjunction
  • Unbalanced translocation

Which of the following is NOT a craniofacial abnormality commonly seen in individuals with Down Syndrome?

  • Flat facies
  • Large ears (correct)
  • Small ears
  • Upward slanting eyes

What is the incidence of Down Syndrome in conceptuses for women over the age of 40?

  • 1 in 35
  • 1 in 100 (correct)
  • 1 in 2000
  • 1 in 3

Flashcards

Cause of Down Syndrome (95%)?

An extra copy of chromosome 21, also known as trisomy 21, is the cause of Down Syndrome in 95% of cases.

Craniofacial abnormality NOT in Down Syndrome?

Large ears are not typically associated with Down Syndrome; common craniofacial features include a flattened face, upward slanting eyes, and a small mouth.

Down Syndrome incidence: women over 40?

The incidence of Down Syndrome in conceptuses for women over 40 is approximately 1 in 100.

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