Skip to main content Accessibility help

Cytogenetic abnormalities on chromosome 18 associated with bipolar affective disorder or schizophrenia

  • Ole Mors (a1), Henrik Ewald (a1), Douglas Blackwood (a2) and Walter Muir (a2)



A few recent linkage studies have shown a possible locus for bipolar disorder on chromosome 18. Cytogenetic studies may assist in the further localisation of susceptibility loci on this chromosome.


A search was made for abnormalities of chromosome 18 in two separate large cytogenetic databases. In Denmark detection of mental illness in subjects with chromosome abnormalities was done by cross-linking the two separate register of psychiatric and chromosome disorders. In Scotland the Cytogenetic Registry of the MRC Human Genetics Unit undertakes long-term clinical follow-up of all cases with chromosome abnormalities.


Cross-linking the two Danish register's revealed a family with the rare karyotype abnormality inv(18) (p11.3;q21.1) with one inversion carrier who also suffered from bipolar disorder. In this family there were two other cases of bipolar disorder, but the karyotype of these cases could not be established. One family in Scotland showed a case of schizophrenia in a carrier of inv(18) with the same breakpoints as the Danish family.


We suggest further studies of the 18p11.3 and 18q21.1 regions in order to identify genes involved in bipolar affective disorder and schizophrenia.


Corresponding author

Dr Ole Mors, Institute for Basic Psychiatric Research, Department of Psychiatric Demography, Skovagervej 2, DK-8240 Risskov, Denmark. Fax: +86 177455


Hide All
American Psychiatric Association (1996) Diagnostic ond Statistical Manual of Mental Disorders (4th edn) (DSM-IV). Washington, DC: APA.
Berrettini, W H., Ferraro, T. N., Goldin, L. R., et al (1994) Chromosome 18 DNA markers and manic-depressive illness: Evidence for a susceptibility gene. Proceedings of the National Academy of Science of the United States of America. 91, 59185921.
Berrettini, W H., Ferraro, T. N., Goldin, L. R., et al (1997) A linkage study of bipolar illness. Archives of General Psychiatry, in press.
Calzolari, E., Alello, V., Palazzi, P., et al (1994) Psychiatric disorder in familial 15; 18 transkxation and subfocalization of myelin basic protein to 18q22.3. American Journal of Medical Genetics (Neuropsychiatric Genetics). 47, 154161.
Coon, H., Jonson, S., Holik, J., et al (1994) Genomic scan for genes predisposing to schizophrenia. American Journal of Medical Genetics (Neuropsychiatrie Genetics). 54, 5971.
Coon, H., Jonson, S., Hoff, M., Holik, J., et al (1994) Analysis of chromosome 18 DNA markers in multiplex pedigrees with manic depression. Biological Psychiatry, 39, 689696.
Do Bruyn, A., Souary, D., Mandalbaum, K., et al (1994) Linkage analysis of families with bipolar illness and chromosome 18 markers. Biological Psychiatry 39, 679688.
Dalisi, L., Lofthousa, R., Lahner, T., et al (1995) Failure to find a chromosome 18 pericentric linkage in families with schizophrenia. American Journal of Medical Genetics (Neuropsychiatric Genetics). 40, 532534.
Ewald, H., Mors, O., Kood, K., et al (1997) Susceptibility loci for bipolar affective disorder on chromosome 18? A review and a study of Danish families. Psychiatric Genetics, in press.
Freimer, N. B., Raus, V. I., Escamilla, M. A., et al (1994) Genetic mapping using hapkrtype. association and linkage nncthods suggests a locus for severe bipolar disorder (BP1) at 18q22-q23. Nature Genetics. 12, 436441.
Garshon, E. S. & Cloninger, C. R. (1994) Genetic Approaches to Mental Disorders, pp. 149192. Washington. DC: American Psychiatric Press.
Kandall, R. E. (1987) Diagnosis and classification of functional psychoses. British Medical Bulletin, 431, 499513.
Krag-Olsan, B., Brask, B. H., Jacobson, P., et al (1981) Is there an increased risk of psychoses in patients with ring 18 and deletion king arm 18? In Human Behaviour and Genetics (eds Schmid, W. & Nielsen, J.), pp. 211220. Amsterdam: Elsevier/North-Holland Biomedical Press.
Mahr, R. N., Moberg, P. J., Ovarhausar, J., et al (1994) Neuropsychiatry of 18q-syndronne. American Journal of Medical Genetics (Neuropsychiatric Genetics), 47, 172178.
Malar, W., Hallmayar, J., Zill, P., et al (1995) Linkage analysis between pericentrometric markers on chromosome 18 and bipolar disorders: A replication test. Psychiatry Research, 59, 715.
Manuzza, S., Pyar, A., Klain, D. et al (1984) Schedule for affective disorders and schizophrenia – lifetime version modified for the study of anxiety disorders (SADS-LA). Rationale and conceptual development. Journal of Psychiatric Research, 20, 317325.
Mazlada, M., Dabraajakaar, M., Ganest, P., et al (1993) A balanced 2:18 translocation and familial schizophrenia: Falling short of an association. Archives of General Psychiatry, 50, 7373.
McGuffin, P., Farmar, A. & Harvay, I. (1991) A polydiagnostic application of operational criteria in studies of psychotic illness. Archives of General Psychiatry, 40, 764770.
Moises, H. W., Yang, L., Kristbjarnarson, H., et al (1995) An international two-stage genome-wide search for schizophrenia susceptibility genes. Nature Genetics. 11, 321324.
Munk-Jorgensen, P., Kastrup, M. & Mortansen, P. B. (1993) The Danish psychiatric register as a tool in epidemiology Acta Psychiatrica Scandinavica. Suppl. 370. 27 32.
Nialsan, J. (1900) The Danish Cytogenetk Central Register: Organization and results. In Topics in Human Genetics, vol. V (eds Becker, P. E., Lenz, W., Vogel, F., et al). New York: Georg Thieme Verlag Stuttgart.
Pauls, D. L., Ott, J., Paul, S. M., et al (1995) Linkage analyses of chromosome 18 markers do not identify a major susceptibility locus for bipolar affective disorder in the Old Order Amish. American Journal of Human Genetics, 57, 636643.
St Clair, D., Blackwood, D., Mulr, W., et al (1909) No linkage to chromosome 5q11-q13 markers to schizophrenia in Scottish families. Nature. 339, 305309.
Stine, O. C., Xu, J., Koskala, R., et al (1995) Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. American Journal of Human Genetics, 57, 13841394.


Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed

Cytogenetic abnormalities on chromosome 18 associated with bipolar affective disorder or schizophrenia

  • Ole Mors (a1), Henrik Ewald (a1), Douglas Blackwood (a2) and Walter Muir (a2)
Submit a response


No eLetters have been published for this article.


Reply to: Submit a response

Your details

Conflicting interests

Do you have any conflicting interests? *