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Down syndrome — RACP Paediatrics MCQ

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EasyGenetics and metabolicDown syndromeRACP Paediatrics

A term newborn has hypotonia, upslanting palpebral fissures, a single palmar crease and a murmur. Echocardiography shows an atrioventricular septal defect. What is the most appropriate investigation?

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Correct answer: C — Chromosomal analysis to confirm trisomy 21

The dysmorphic features and AVSD strongly suggest Down syndrome, confirmed with chromosomal analysis to define trisomy or translocation. Sweat testing does not explain the phenotype or cardiac lesion. The pearl is that confirmation matters for recurrence counselling and comorbidity screening.

Reference: RCH Clinical Practice Guidelines; RACP General Paediatrics curriculum