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

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

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

Flashcards

What causes Down Syndrome?

A chromosomal disorder caused by meiotic nondisjunction, typically resulting in an extra copy of chromosome 21.

Turner Syndrome

A chromosomal disorder where one of the X chromosomes is missing or partially missing in females.

Webbed neck

This is NOT a sign or symptom of Turner Syndrome. It is related to Down Syndrome.

Microcephaly cause

A condition where the head circumference is smaller than normal for the baby's age and sex, often linked to congenital infections.

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Hypothyroidism

A condition where the thyroid gland does not produce enough thyroid hormone, which is a common complication associated with Turner Syndrome.

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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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