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Cri du chat – 5p deletion — RACP Paediatrics MCQ

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EasyGeneticsCri du chat – 5p deletionRACP Paediatrics

A newborn has a high-pitched 'cat-like' cry, microcephaly, hypertelorism, and severe intellectual disability. Karyotype shows a deletion of the short arm of chromosome 5. What is the most likely diagnosis?

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Correct answer: D — Cri du chat syndrome (5p deletion)

A high-pitched monochromatic cry resembling a cat's mewing ('cri du chat'), microcephaly, hypertelorism, and severe ID is cri du chat syndrome (5p deletion). The cry is caused by laryngeal abnormalities and typically normalises by age 2. The deletion can be confirmed by karyotype, FISH, or microarray.

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023