CMA for Developmental Delay — RACP Paediatrics MCQ

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ModerateNeurology & DevelopmentCMA for Developmental DelayRACP Paediatrics

Unexplained global developmental delay, dysmorphic features, normal karyotype. Best first-line genetic test?

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Correct answer: E — Chromosomal microarray

CMA detects pathogenic CNVs in 15-20% of unexplained DD/ID. First-tier genetic test.

Reference: RACP – 2024