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Article

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jun 2011

Tartaglia Nicole, Ayari Natalie, Howell Susan, D'Epagnier Cheryl, Zeitler Philip

Abstract excerpt

UNLABELLED: Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the...

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Identifiers

PMID: 21342258
DOI: 10.1111/j.1651-2227.2011.02235.x
PMCID: PMC3314712

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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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