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Psychiatry · Child and adolescent psychiatry: cri-du-chat syndrome
Sample itemA newborn has a high-pitched cat-like cry, microcephaly, hypertelorism and later severe intellectual disability. What is the chromosomal abnormality?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Deletion of the short arm of chromosome 5
Cri-du-chat syndrome results from a deletion of the short arm of chromosome 5 (5p-). Trisomy 21 causes Down syndrome, and 15q11-q13 deletions cause Prader-Willi or Angelman syndrome.
Option by option
A. Extra X chromosome in a male
An extra X in a male is Klinefelter syndrome.
B. Deletion of chromosome 15q11-q13
A 15q11-q13 deletion causes Prader-Willi or Angelman syndrome.
C. Deletion of the short arm of chromosome 5 (correct)
Correct. The 5p deletion produces the cat-like cry.
D. Trisomy 21
Trisomy 21 causes Down syndrome, with hypotonia and upslanting eyes.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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