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Radiology · Obstetric imaging: cystic hygroma
Sample itemA first trimester scan shows a large, septated cystic mass at the back of the fetal neck with marked nuchal skin thickening. Which chromosomal disorder is most strongly associated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Turner syndrome (45,X)
Septated cystic hygromas arise from failure of lymphatic drainage into the jugular veins and are strongly linked with Turner syndrome and hydrops, and also Down syndrome. Karyotyping is recommended.
Option by option
A. Turner syndrome (45,X) (correct)
Correct. Septated cystic hygroma is strongly linked with 45,X.
B. Cri-du-chat syndrome
Cri-du-chat does not typically show this finding.
C. Klinefelter syndrome
Klinefelter syndrome is not linked with fetal hygroma.
D. Edwards syndrome only
Edwards syndrome has other features and is less typical for hygroma.
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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