5 Questions
Which of the following is NOT a sign or symptom of Down Syndrome?
Webbed neck
Which of the following is a complication commonly associated with Turner Syndrome?
Hypothyroidism
What is the most common chromosomal abnormality associated with Microcephaly?
Congenital infections
What is the most common cause of Down Syndrome?
Meiotic nondisjunction
Which of the following is NOT a sign or symptom of Turner Syndrome?
Webbed neck
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))
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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