Which of the following pairs is INCORRECTLY matched?

Appeared in: DSSSB 14 August 2024

Explanation

The pair 'Trisomy 15 - Turner syndrome' is incorrect because Turner syndrome is a sex chromosome disorder, not an autosomal trisomy.
Turner syndrome is caused by the complete or partial absence of one X chromosome in females, a condition known as Monosomy X (45,X).
Trisomy 15 is a separate, rare, and typically lethal autosomal trisomy that is not associated with the clinical features of Turner syndrome.

Option A: This is a correctly matched pair, making it an incorrect answer for a question that asks to identify the mismatched pair.
Option C: This is a correctly matched pair, making it an incorrect answer for a question that asks to identify the mismatched pair.
Option D: This is a correctly matched pair, making it an incorrect answer for a question that asks to identify the mismatched pair.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Chromosomal Aneuploidies and Associated Syndromes as background academic context rather than a clinical decision trigger.
Nurses play a crucial role in supporting families with a prenatal or postnatal diagnosis of a chromosomal disorder, providing education, and coordinating care with genetic counselors and specialists.
Understanding the genetic basis of these syndromes is essential for accurate patient and family education regarding prognosis, management, and recurrence risk.
What if the question asked for a monosomy compatible with life? The answer would involve Turner syndrome (Monosomy X), as it is the only full monosomy that allows for survival after birth.

How to Approach the Question

First, identify the core task: find the INCORRECTLY matched pair. This negative framing is key.
Second, systematically evaluate each option. For each pair, recall the specific genetic basis of the named syndrome.
For Option A: Patau syndrome is caused by Trisomy 13. This is a correct match.
For Option B: Turner syndrome is caused by Monosomy X (45,X0), not Trisomy 15. This is an incorrect match.
For Option C: Down syndrome is the classic example of Trisomy 21. This is a correct match.
For Option D: Edward syndrome is caused by Trisomy 18. This is a correct match.

Concept Tested & Keywords

Concept Tested: Chromosomal Aneuploidies and Associated Syndromes
Stem keywords: INCORRECTLY matched, Trisomy 13, Patau syndrome, Trisomy 15, Turner syndrome, Trisomy 21, Down syndrome, Trisomy 18
Lead-in keywords: INCORRECTLY matched
Negative lead-in flag: The question asks for the INCORRECTLY matched pair.

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E6 Nelson Textbook of Pediatrics(2024) — Volume 1 p. 810-812

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 175-177

E6 Obstetrics Williams p. 6-17

Practise the full DSSSB 14 August 2024

Attempt every question from this paper in a timed mock, then review the full solution for each one.