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Psychotic Manifestations in a Patient with Mental Retardation and a 6.2 Megabase Deletion at the Distal Short Arm of Chromosome 12

Published online by Cambridge University Press:  07 November 2014

Milen Velinov ,
Gail Beldia ,
Hong Gu ,
John A. Tsiouris ,
Edmund C. Jenkins  and
W. Ted Brown
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Abstract

Genetic factors are known to contribute to the development of schizophrenia and related psychoses. Cytogenetic abnormalities have been occasionally found in patients with psychotic disorders and, thus, have helped identify candidate gene contributors for these conditions. The individual described here first presented with mental retardation and anxiety disorder in his mid-childhood. In his early 20s, the patient started exhibiting various psychotic manifestations, including delusions and hallucinations. His psychotic symptoms were difficult to control with psychotropic medications. The family history was negative for psychiatric disorders. This patient was found to have a 6.2 megabase deletion of the terminal portion of the short arm of chromosome 12 that was characterized using fluorescence in situ hybridization and microarray comparative genomic hybridization analysis. The maternal chromosomes were normal, but the paternal chromosomes could not be tested. To date such a chromosomal abnormality has not been described in association with schizophrenia/psychosis. This case suggests that psychosis-associated gene(s) may be located in the terminal region of the short arm of chromosome 12.

Type
Case Report
Information
CNS Spectrums , Volume 13 , Issue 6 , June 2008 , pp. 515 - 519
Copyright
Copyright © Cambridge University Press 2008

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References

REFERENCES

1.Crow, TJ. How and why genetic linkage has not solved the problem of psychosis: review and hypothesis. Am J Psychiatry. 2007;164:13–21.CrossRefGoogle Scholar
2.Muir, WJ, Pickard, BS, Blackwood, DH. Chromosomal abnormalities and psychosis. Br J Psychiatry. 2006;188:501–503.Google Scholar
3.Urraca, N, Arenas-Sordo Mde, L, Ortiz-Domingues, A. et al.An 8q21 deletion in a patient with comorbid psychosis and mental retardation. CNS Spectr. 2005;10:864–866.CrossRefGoogle Scholar
4.Caluseriu, O, Mirza, G, Ragoussis, J, Chow, EW, MacCrimmon, D, Bassett, AS. Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A. 2006;140:1208–1213.CrossRefGoogle Scholar
5.Baroncini, A, Avellini, C, Neri, C, Forabosco, A. Distal 12p deletion in a stillborn infant, Am J Med Genet. 1990;36:358–360.CrossRefGoogle Scholar
6.Baker, E, Hinton, L, Callen, DF, Haan, EA, Dobbie, A, Sutherland, GR. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet. 2002;61:198–201.Google Scholar