Systemic pathology: cystic hygroma: practice question

A Pathology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pathology · Systemic pathology: cystic hygroma

Sample item

A second-trimester ultrasound shows a large septated cystic swelling at the back of the fetal neck. After birth, histology shows dilated lymphatic channels. Which karyotype is most commonly associated with this lesion?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

C. 45,X

Cystic hygroma is a cavernous lymphangioma of the posterior neck, caused by failure of the jugular lymphatic sacs to drain into the venous system. It is most often associated with Turner syndrome (45,X), and also with trisomies 21 and 18. Hydrops and webbed neck may follow.

Option by option

  • A. 47,XXY

    Klinefelter syndrome (47,XXY) is not typically linked to a fetal neck lymphatic malformation.

  • B. 69,XXX

    Triploidy (69,XXX) presents with growth restriction and placental changes rather than isolated nuchal hygroma.

  • C. 45,X (correct)

    Correct. Monosomy X (Turner syndrome) is the commonest association of cystic hygroma.

  • D. 47,XX,+18

    Trisomy 18 can show cystic hygroma but is less common than monosomy X.

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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Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is C, 45,X. Cystic hygroma is a cavernous lymphangioma of the posterior neck, caused by failure of the jugular lymphatic sacs to drain into the venous system.

Why is "47,XXY" not the answer?

Klinefelter syndrome (47,XXY) is not typically linked to a fetal neck lymphatic malformation.

Why is "69,XXX" not the answer?

Triploidy (69,XXX) presents with growth restriction and placental changes rather than isolated nuchal hygroma.

Why is "47,XX,+18" not the answer?

Trisomy 18 can show cystic hygroma but is less common than monosomy X.

What concept does this question test?

It tests Systemic pathology: cystic hygroma in Pathology. It is most often associated with Turner syndrome (45,X), and also with trisomies 21 and 18. Hydrops and webbed neck may follow.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Systemic pathology: cystic hygroma?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.