the co - existence of an aberration in a different chromosome of a klinefelter 's syndrome is rare . still rare several cases of double aneuploidy of xxy and trisomy 21 have been published since the first report . but occurrence of xxy aneuploidy and 9 chromosome inversion with co - existing schizophrenia has not been reported so far . a 38-year - old unmarried male was brought to our psychiatric center , sri ramachandra medical college and research institute , chennai , for the complaints of withdrawn behavior , muttering to self , lacking self - care and having disturbed sleep for 2 years . he used to wander away from home on and off , but used to return home on his own within 23 days . but he went missing for about 1.5 years before he was traced in a temple and brought to our facility on 10 november 2008 . he was born of non - consanguineous parents and the delivery was a full - term normal one . he was reared only by his mother as his father had left their family 2 years after his birth . on discontinuation from school after his failure in 6 standard , from the age of 17 years he undertook several jobs . family history revealed that his paternal uncle had mental illness , but the details could not be obtained for want of suitable informant . on mental status examination , his general appearance was found to be poor , with ill - kempt hair , unclipped nails , and untidy clothes . he denied the identity of his mother and sister who had brought him , but called them as his relatives . delusions of persecution and reference , and second person auditory hallucination were present . the orientation to place , persons , and time , and memory for immediate , recent , and remote events were intact . his intellectual capacity seemed to be mildly backward as indicated by his verbal and performance [ intelligence quotient ( iq ) of 71 and 56 , respectively ] with full scale iq of 63 on assessment with wechsler 's adult intelligence scale that was administered in regional language . however , the diagnosis of co - morbid mental retardation was shelved considering the possible decline in his cognitive and social spheres as a result of psychosis . dsm - iv diagnosis of schizophrenia was established after performing the structured clinical interview using the mini international neuropsychiatric interview schedule for psychotic disorders . on general examination , absence of hair in the axillary region and on the face and chest was observed . the dimensions of the testes as measured by the ultrasound were 15 mm in length , 10 mm in breadth and 12 mm antero - posteriorly . hormonal assay showed his free testosterone as 4.70 pg / ml which was low ( reference range 8.827 pg / ml ) . additionally , the follicle stimulating hormone ( fsh ) and luteinizing hormone ( lh ) levels were detected to be high ( 41.04 and 28.21 miu / ml , respectively ) ( respective reference ranges 915 and 2.45.9 miu / ml ) . the chromosome analysis of 50 metaphases with gtg banding showed a numerical and a structural abnormality . the karyotype was mos 47,xxy , inv(9 ) ( p12 ; q12 ) [ 90% ] / 46,xy[10% ] , inv(9 ) ( p12 ; q12 ) and that of klinefelter 's syndrome ( male mosaic ) [ figures 1 and 2 ] . a small pericentric inversion of chromosome 9 has been noted to be present in up to 1.98% of all individuals tested by cytogenetic laboratories and is seen mostly in african - americans . it is said that inv(9)(p11q12 ) has no known deleterious effect on carriers and does not appear to be associated with a risk of miscarriage or unbalanced offspring . it is , therefore , generally considered as a normal variant . notwithstanding this , it is difficult to rule out at this stage the impact of inv(9 ) on the human behavior . pericentric region of chrosomome 9 was suggested as one of the regions of interest for linkage analysis based on an examination of 120 patients with schizophrenia of whom 4 ( 3.3% ) were found to have a pericentric inversion of chromosome 9 . a turkish study noted pericentric inversion and enlargement of the heterochromatin region of chromosome 9(inv(9 ) ; 9qh+ ) in 7 out of their 134 schizophrenics ( 5.2% ) . more recently , a clonal pericentric inversion on chromosome 9 was detected in 1 male patient from a sample of 62 brazilian schizophrenic patients . there has been no systematic report on the levels of schizophrenia psychopathology in a large sample of people with klinefelter 's syndrome unselected for psychiatric disorders . in a sample of 32 men with klinefelter 's syndrome , higher level of schizotypal traits and higher scores for positive and negative symptoms were noted . case reports on klinefelter 's syndrome with schizophrenia fulfilling the diagnostic criteria have not so far observed the presence of inv(9 ) in their series . despite the absence of unequivocal evidences for any deleterious effect of inv(9 ) , it is still worthwhile to explore whether it has any role in the etiology of schizophrenia , especially when it occurs along with other genotypic aberrations that are suspected to have relevance to psychiatric disorders including the klinefelter 's syndrome . these anomalies might increase the risk for schizophrenia in a relatively nonspecific way such as contributing to disruption of normal embryogenesis of the nervous system .