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An 8q21 Deletion in a Patient with Comorbid Psychosis and Mental Retardation

Published online by Cambridge University Press:  07 November 2014

Nora Urraca ,
Maria de la Luz Arenas-Sordo ,
Abigail Ortiz-Domínguez ,
Angélica Martínez ,
Bertha Molina ,
Arturo Galvez  and
Humberto Nicolini
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Abstract

Systematic investigations indicate that some of the recognized psychiatric disorders can be identified among those with mental retardation due to chromosomal abnormalities. We report a psychotic patient with mild mental retardation (intelligence quotient: 68) and minor anomalies that had a chromosomal aberration not previously described in a psychotic patient. Our patient highlights the importance of the cytogenetic study in psychiatric patients with comorbid mental retardation or minor anomalies. In addition, her psychosis symptoms may be helpful to propose a new candidate gene for psychosis.

Type
Case Report
Information
CNS Spectrums , Volume 10 , Issue 11 , November 2005 , pp. 864 - 866
Copyright
Copyright © Cambridge University Press 2005

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References

REFERENCES

1.Diagnostic and Statistical Manual of Mental Disorders. 4th ed. text rev. Washington, DC: American Psychiatric Association; 2000.Google Scholar
2.Nurberger, J, Berrettini, W. Psychiatric genetics. In: Ebert, M, Loosen, P, Nurcombe, B, eds. Current Diagnosis and Treatment in Psychiatry, New York, NY: McGraw Hill; 2000:61–79.Google Scholar
3.Raynham, H, Gibbons, R, Flint, J, Higgs, D. The genetic basis of mental retardation. QJM. 1996;89:169–175.Google Scholar
4.Flint, J. The genetic basis of cognition. Brain. 1999;122:2015–2031.Google Scholar
5.Thapar, A, Clayton-Smith, J. Genetics of mental retardation. In: McGuffin, Owen & Gottesman, , eds. Psychiatric Genetics and Genomics. New York, NY: Oxford University Press. 2002:113–128.Google Scholar
6.Williams, NM, Owen, MJ. Genetic abnormalities of chromosome 22 and the development of psychosis. Curr Psychiatry Rep. 2004;6:176–182.Google Scholar
7.Boer, H, Holland, A, Whittington, J, Butler, J, Webb, T, Clarke, D. Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet. 2002;359:135–136.Google Scholar
8.Reif, A, Kress, W, Wurm, K, Benninghoff, J, Pfuhlmann, B, Lesch, KP. Duplication 15q14–>pter: a rare chromosomal abnormality underlying bipolar affective disorder. Eur Psychiatry. 2004;19:179–181.Google Scholar
9.Takhar, J, Malla, AK, Siu, V, MacPherson, C, Fan, YS, Townsend, L. An interstitial deletion of the long arm of chromosome 21 in a case of first episode of psychosis. Acta Psychiatr Scand. 2002;106:71–74.Google Scholar
10.Glass, IA, Stormer, P, Oei, PT, Hacking, E, Cotter, PD. Trisomy 2q11.2–>q21.1 resulting from an unbalanced insertion in two generations. J Med Genet. 1998;35:319–322.Google Scholar
11.Murphy, KC, Owen, MJ. Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Br J Psychiatry. 2001;179:397–402.Google Scholar
12.Gothelf, D, Presburger, G, Zohar, A, et al. Obsessive-compulsive disorder in patients with velocardiofacial syndrome (22q11deletion) syndrome. Am J. Med Genet. 2004;126B:99–105.Google Scholar
13.Fryburg, J, Golden, W. Interstitial deletion of 8q13.3-22.1 Associated with craniosynostosis. Am J Med Genet 1993;45:638–641.Google Scholar
14.Donahue, M, Ryan, R. Interstitial deletion of 8q21-22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. Am J Med Genet. 1995;56:97–100.Google Scholar
15.Horn, D, Krebsová, A, Kunze, J, Reis, A. Homozygosity mapping in a family with microcephaly, mental retardation and short stature to a Cohen syndrome region on 8q21.2-8q22.1: redefining a clinical entity. Am J Med Genet. 2000;92:285–292.Google Scholar
16.Berlow, S. Psychosis in a child with the XYY karyotype. Proc Inst Med Clin. 1969;27:210.Google Scholar
17.Abrams, N, Pergament, E. Childhood psychosis combined with XYY abnormalities. J Genet Psychol. 1971;118:13–16.Google Scholar
18.Avramopoulos, D, Willour, VL, Zandi, PP, et al. Linkage of bipolar affective disorder on chromosome 8q24: follow-up and parametric analysis. Mol Psychiatry. 2004;9:191–196.Google Scholar
19.Cichon, S, Schumacher, J, Muller, DJ, et al. A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q. Hum Mol Genet. 2001;6:2933–2944.Google Scholar
20.Liu, J, Juo, SH, Dewan, A, et al. Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12. Mol Psychiatry. 2003;8:333–342.Google Scholar
21.Simonic, I, Nyholt, DR, Gericke, GS. Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. Am J Med Genet. 2001;105:163–167.Google Scholar
22.Berrettini, W, Ferraro, T, Goldin, L, et al. A linkage study of bipolar illness. Arch Gen Psychiatry. 1997;54:27–35.Google Scholar
23.Berrettini, WH. Are schizophrenic and bipolar disorder related? A review of family and molecular studies. Biol Psychiatry. 2000;48:531–538.Google Scholar
24.Kelsoe, J. Arguments for the genetics basis of bipolar spectrum. J Affect Disord. 2003;73:183–197.Google Scholar