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Prader-Willi Syndrome — RACP Paediatrics MCQ

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ModerateEndocrinologyPrader-Willi SyndromeRACP Paediatrics

A 3-year-old has severe obesity (>99th centile), short stature, developmental delay, voracious appetite. Neonatal hypotonia. Diagnostic test?

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Correct answer: D — Methylation studies at 15q11-q13

Prader-Willi syndrome: methylation studies detect >99% of cases regardless of mechanism.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics