Chromatin-positive Klinefelter's syndrome: Clinical and cytogenetic studies

Rohde, Russell A.

doi:10.1016/0021-9681(63)90050-x

Cited by 28 publications

(4 citation statements)

References 11 publications

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“…These are subdivided into those studies in which chromosome analyses were performed on all individuals (tables la and 2a) and those that began by screening large groups of patients by examining the sex chromatin from buccal smears (tables lb and 2b). The latter are less reliable and may yield false negatives since only approximately 50 percent of buccal scraping will be positive for extra chromatin (Smith et al 1962), although false positives are also found; thus, we have only considered studies in which abnormal sex chromatin was confirmed by cytogenetic examination.…”

Section: Resultsmentioning

confidence: 99%

Schizophrenia and Sex Chromosome Anomalies

DeLisi

Friedrich

Wahlström³

et al. 1994

Schizophrenia Bulletin

166

121

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An apparent excess of sex chromosome aneuploidies (XXY, XXX, and possibly XYY) has been reported in populations of patients with schizophrenia by a number of authors. These reports have received little attention because transmission of psychosis is regarded as autosomal and not sex linked, and the detection of extra X chromosomes by Barr body estimation alone is not a reliable procedure. In this article, we review studies in which either complete karyotypes were determined for the whole sample or in which the presence of a Barr body in an individual was checked by full cytogenetic analysis. We also add two studies (of the former type) of our own--on a Swedish hospital cohort and a United States multiplex-schizophrenia family sample. These data, taken together, suggest that the sex chromosome aneuploidies, XXX and XXY, are increased in population of patients with schizophrenia, whereas too few subjects have been surveyed to determine whether an association also exists with XYY. Nevertheless, we conclude that this is consistent with a gene on the sex chromosomes having influence on the development of schizophrenia. A sex chromosome locus is compatible with an autosomal pattern of transmission if the gene is either pseudoautosomal (i.e., within the exchange region) or X-Y homologous (i.e., present in similar form in the nonrecombining regions of both X and Y chromosomes).

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Section: Resultsmentioning

confidence: 99%

Schizophrenia and Sex Chromosome Anomalies

DeLisi

Friedrich

Wahlström³

et al. 1994

Schizophrenia Bulletin

166

121

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“…Much attention has previously been given to the association of the XXY karyotype with psychiatric disorders, particularly affective psychoses and schizophrenia [e.g., Rohde, 1963;Kvale and Fishman, 1965;Hambert, 1966;Nielsen, 1969;Nielsen et al, 1969Nielsen et al, , 1980Forsmann, 1970;Rosen et al, 1970;Sorensen and Nielsen, 1977;Roy, 1981;reviewed in DeLisi et al, 1994] Of the 11 subjects with Klinefelter's syndrome in the present study, 1 was diagnosed with chronic schizoaffective disorder, and 3 others had a predominant affective disorder with psychotic features. None of the controls had any evidence of psychosis, although four of them had a major affective disorder.…”

Section: Discussionmentioning

confidence: 96%

Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders

DeLisi

Maurizio

Svetina

et al. 2005

American J of Med Genetics Pt B

141

152

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Males with an extra-X chromosome (Klinefelter's syndrome) frequently, although not always, have an increased prevalence of psychiatric disturbances that range from attention deficit disorder in childhood to schizophrenia or severe affective disorders during adulthood. In addition, they frequently have characteristic verbal deficits. Thus, examining brain magnetic resonance imaging (MRI) scans of these individuals may yield clues to the influence of X chromosome genes on brain structural variation corresponding to psychiatric and cognitive disorders. Eleven adult XXY and 11 age matched XY male controls were examined with a structured psychiatric interview, battery of cognitive tests, and an MRI scan. Ten of eleven of the XXY men had some form of psychiatric disturbance, four of whom had auditory hallucinations compared with none of the XY controls. Significantly smaller frontal lobe, temporal lobe, and superior temporal gyrus (STG) cortical volumes were observed bilaterally in the XXY men. In addition, diffusion tensor imaging (DTI) of white matter integrity resulted in four regions of reduced fractional anisotropy (FA) in XXY men compared with controls, three in the left hemisphere, and one on the right. These correspond to the left posterior limb of the internal capsule, bilateral anterior cingulate, and left arcuate bundle. Specific cognitive deficits in executive functioning attributable to frontal lobe integrity and verbal comprehension were noted. Thus, excess expression of one or more X chromosome genes influences both gray and white matter development in frontal and temporal lobes, as well as white matter tracts leading to them, and may in this way contribute to the executive and language deficits observed in these adults. Future prospective studies are needed to determine which gene or genes are involved and whether their expression could be modified with appropriate treatments early in life. Brain expressed genes that are known to escape inactivation on extra-X chromosomes would be prime candidates.

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“…Studies of single cases with Klinefelter's syndrome and diabetes mellitus (3)(4)(5)(6)(7)(8)(9)(10) as well as studies of the frequency of diabetes mellitus in groups of patients with Klinefelter's syndrome have been made (1,2,(11)(12)(13)(14)(15)(16)). It appears from Table 1 that 28% of 53 patients with Klinefelter's syndrome who were tested had a diabetic glucose tolerance test, and 7% of 150 patients with Klinefelter's syndrome had overt diabetes mellitus.…”

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confidence: 98%