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Klinefelter’s syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology

Department of Psychiatry, Rudolf Magnus Institute for Neuroscience, University Medical Centre, and Experimental Psychology, Helmholtz Institute, Utrecht University

ANDRÉ ALEMAN, PhD

Experimental Psychology, Helmholtz Institute, Utrecht University and BCN Neuroimaging Centre, University of Groningen

HANNA SWAAB, PhD

Department of Psychiatry, Rudolf Magnus Institute for Neuroscience, University Medical Centre, Utrecht, and Department of Clinical Child and Adolescent Studies, Leiden University

RENÉ KAHN, PhD, MD

Department of Psychiatry, Rudolf Magnus Institute for Neuroscience, University Medical Centre, Utrecht, The Netherlands

Correspondence: Sophie van Rijn, Experimental Experimental Psychology, Helmholtz Instituut, Universiteit Utrecht, PO Box 80125, 3508 TC Utrecht, The Netherlands. Tel: +31 30 253 1866; fax: +31 30 253 4511; email: s.vanrijn{at}fss.uu.nl

Declaration of interest None.

Klinefelter’s syndrome, characterised by a 47,XXY chromosomal pattern, has largely been associated with physical abnormalities. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. This may have implications for treatment of have implications for treatment of Klinefelter’s syndrome and suggests that the X chromosome may be involved in the aetiology of schizophrenia.

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