A newborn with severe intellectual disability, microcephaly, and a high-pitched (cat-like) cry has cytogenetics showing deletion of chromosome 5p. What is this syndrome?

• A Cri-du-chat syndrome (5p- syndrome) ✓
• B Wolf-Hirschhorn syndrome (4p- syndrome)
• C Williams syndrome (7q11.23 deletion)
• D DiGeorge syndrome (22q11.2 deletion)

Explanation

Cri-du-chat syndrome (5p- syndrome) results from deletion of the short arm of chromosome 5 (5p15.2 critical region). The characteristic high-pitched, mewing cat-like cry (French: cri-du-chat) is due to laryngeal hypoplasia and abnormal laryngeal development. Features include microcephaly, hypertelorism, severe intellectual disability, and low birth weight. Wolf-Hirschhorn (4p-) has 'Greek warrior helmet' facies; Williams syndrome has supravalvular aortic stenosis and elfin facies; DiGeorge involves thymic aplasia and cardiac defects.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

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