Childhood Syndromes: Trisomy 21 (Down Syndrome)

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Questions and Answers

What is the most common congenital heart defect in Down syndrome?

  • PDA
  • AVSD (correct)
  • ASD
  • VSD

Which syndrome is associated with an additional X chromosome in males?

  • Fragile X syndrome
  • Turner's syndrome
  • Klinefelter's syndrome (correct)
  • Noonan's syndrome

What is the characteristic facial feature of Edward's syndrome?

  • Upward sloping palpebral fissure
  • Low-set ears (correct)
  • Prominent epicanthic folds
  • Flattened face and nose

Which syndrome is associated with a mutation in a gene on the X chromosome?

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

What is the characteristic feature of Prader-Willi syndrome?

<p>Constant insatiable hunger (A)</p> Signup and view all the answers

What is the congenital heart defect associated with Turner's syndrome?

<p>Coarctation of the aorta (A)</p> Signup and view all the answers

Which syndrome is associated with a short neck and webbed neck?

<p>Turner's syndrome (D)</p> Signup and view all the answers

What is the characteristic feature of Angelman's syndrome?

<p>Fascination with water (D)</p> Signup and view all the answers

Which syndrome is associated with an autosomal dominant inheritance?

<p>Noonan's syndrome (C)</p> Signup and view all the answers

What is the characteristic feature of William's syndrome?

<p>Starburst eyes (B)</p> Signup and view all the answers

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