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

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          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.

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          Author and article information

          Journal
          Acta Paediatr
          Acta paediatrica (Oslo, Norway : 1992)
          Wiley
          1651-2227
          0803-5253
          Jun 2011
          : 100
          : 6
          Affiliations
          [1 ] Section of Neurodevelopmental Behavioral Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA. Tartaglia.nicole@tchden.org
          Article
          NIHMS363082
          10.1111/j.1651-2227.2011.02235.x
          3314712
          21342258
          b71679dd-e1fa-4ea3-b201-2b25b847a76a
          © 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.
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