Abnormal cerebral asymmetry and schizophrenia in a subject with Klinefelter’s syndrome (XXY)

• Published in: Biological psychiatry (1969) Vol. 53; no. 7; pp. 627 - 629
• Main Authors: Warwick, Michael M, Lawrie, Stephen M, Beveridge, Allan, Johnstone, Eve C
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.04.2003; Elsevier Science
• Subjects: Adolescent; Adult and adolescent clinical studies; asymmetry; Biological and medical sciences; Chromosome aberrations; Humans; Klinefelter Syndrome - complications; Klinefelter Syndrome - pathology; Klinefelter’s Syndrome; Magnetic Resonance Imaging; Male; Medical genetics; Medical sciences; Prefrontal Cortex - abnormalities; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; psychosis; Schizophrenia; Schizophrenia - complications; Schizophrenia - pathology; Scotland; sex chromosome aneuploidy; Temporal Lobe - abnormalities; X chromosome; Scotland; asymmetry; schizophrenia; sex chromosome aneuploidy; psychosis; X chromosome; Klinefelter’s Syndrome; Chromosomal aberration; Endocrinopathy; Human; Klinefelter syndrome; Schizophrenia; Aneuploidy; Exploration; Sexual differentiation disorder; Supernumerary X chromosome; Nuclear magnetic resonance imaging; Hypogonadism; Psychosis; Concomitant disease; Asymmetry; Malformation; Medical imagery; Diagnosis; Male genital diseases; Brain (vertebrata)
• ISSN: 0006-3223; 1873-2402
• DOI: 10.1016/S0006-3223(02)01484-1

A high incidence of schizophrenia has been reported in individuals with sex chromosome aneuploides (SCAs), and extra-X aneuploidy appears to adversely affect neurodevelopment. We previously examined neurodevelopment in SCA subjects with structural magnetic resonance imaging (MRI) of the brain. We present an XXY subject who subsequently developed schizophrenia. Further examination of the MRI data was undertaken. Graphs of MRI-determined regional brain to whole brain volume proportions and cerebral asymmetry indexes were generated for Klinefelter ( n = 10) and male control subjects ( n = 25) to allow inter-individual comparisons. The index case had reversed prefrontal and temporal lobe asymmetries, and these findings were more marked than in any other subject. It has been suggested that a genetic locus for schizophrenia may be found on the X chromosome and that the gene(s) concerned are implicated in the development of normal cerebral asymmetries. This case supports these arguments.