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- Title
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
- Authors
Tartaglia, Nicole; Ayari, Natalie; Howell, Susan; D'Epagnier, Cheryl; Zeitler, Philip
- Abstract
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 spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments.
- Publication
Acta paediatrica (Oslo, Norway : 1992), 2011, Vol 100, Issue 6, p851
- ISSN
1651-2227
- Publication type
Journal Article
- DOI
10.1111/j.1651-2227.2011.02235.x