Down Syndrome
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Questions and Answers

Which of the following is NOT a sign or symptom of Down Syndrome?

  • Round face
  • Flat occiput
  • Single palmar crease
  • Webbed neck (correct)
  • Which of the following is a complication commonly associated with Turner Syndrome?

  • Congenital heart defects
  • Hypothyroidism (correct)
  • Duodenal atresia
  • Celiac disease
  • What is the most common chromosomal abnormality associated with Microcephaly?

  • Trisomy 21
  • Congenital infections (correct)
  • Translocation
  • 45,X
  • What is the most common cause of Down Syndrome?

    <p>Meiotic nondisjunction</p> Signup and view all the answers

    Which of the following is NOT a sign or symptom of Turner Syndrome?

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

    Study Notes

    Chromosomal Abnormalities

    • Down Syndrome:
      • Most common cause: trisomy of chromosome 21 (47,XY,+21 or 47,XX,+21)
      • NOT a sign or symptom: to be filled in by student (study note)

    Turner Syndrome

    • Complication: short stature (growth hormone deficiency)
    • NOT a sign or symptom: to be filled in by student (study note)

    Microcephaly

    • Most common chromosomal abnormality: deletion of chromosome 13 (46,XY,del(13)(q12q14) or 46,XX,del(13)(q12q14))

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    Description

    Test your knowledge on Down Syndrome, including its aetiopathogenesis, signs and symptoms, as well as complications. Keywords: Down Syndrome, trisomy 21, meiotic nondisjunction, translocation, mosaicism, signs and symptoms, examination, complications.

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