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Article

Neurologic aspects of 49,XXXXY syndrome.

Journal of child neurology - 1 Jul 2003

Galasso Cinzia, Arpino Carla, Fabbri Francesca, Curatolo Paolo

Abstract excerpt

49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects, and genital abnormalities. We describe a 13-year-old boy with 49,XXXXY syndrome, language impairment, seizures, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and...

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Identifiers

PMID: 12940658
DOI: 10.1177/08830738030180071001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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