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Questions and Answers
Which of the following is NOT a sign or symptom of Down Syndrome?
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?
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?
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?
What is the most common cause of Down Syndrome?
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Which of the following is NOT a sign or symptom of Turner Syndrome?
Which of the following is NOT a sign or symptom of 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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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.
