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Duplication 15q14 → pter: a rare chromosomal abnormality underlying bipolar affective disorder

Published online by Cambridge University Press:  16 April 2020

Andreas Reif ,
Wolfgang Kress ,
Karl Wurm ,
Jens Benninghoff ,
Bruno Pfuhlmann  and
Klaus-Peter Lesch
Andreas Reif*
Affiliation:
Department of Psychiatry and Psychotherapy, Julius-Maximilians-University of Würzburg, Füchsleinstr. 15, 97080Würzburg, Germany
Wolfgang Kress
Affiliation:
Department of Human Genetics, University of Würzburg, Theodor-Boveri-Center am Hubland, 97074Würzburg, Germany
Karl Wurm
Affiliation:
Department of Nuclear Medicine, University of Würzburg, Josef-Schneider-Str. 2, 97080Würzburg, Germany
Jens Benninghoff
Affiliation:
Department of Psychiatry and Psychotherapy, Julius-Maximilians-University of Würzburg, Füchsleinstr. 15, 97080Würzburg, Germany
Bruno Pfuhlmann
Affiliation:
Department of Psychiatry and Psychotherapy, Julius-Maximilians-University of Würzburg, Füchsleinstr. 15, 97080Würzburg, Germany
Klaus-Peter Lesch
Affiliation:
Department of Psychiatry and Psychotherapy, Julius-Maximilians-University of Würzburg, Füchsleinstr. 15, 97080Würzburg, Germany
*
*Corresponding author. E-mail address: a.reif@gmx.net (A. Reif).
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Abstract

We have followed up a patient with 8q24.2 → qter and 15q14 → pter duplication due to a maternal reciprocal translocation, a condition related to Prader-Willi Syndrome. Apart from dysmorphic features, the patient suffered from recurring episodes of bipolar psychosis. Interestingly, PET scanning revealed revealed prominent bilateral hypometabolism in the frontal, temporal, and parietal lobes as well as in the cerebellum. Possible implications of this rare chromosomal abnormality with regards to psychiatric disorders are discussed, with emphasis on recent evidence suggesting chromosome 15q13-15 as a susceptiblity locus for psychosis.

Keywords

Bipolar psychosisChromosomal aberrationPrader–Willi syndromeChromosome 15Familial translocation
Type
Case report
Information
European Psychiatry , Volume 19 , Issue 3 , May 2004 , pp. 179 - 181
Copyright
Copyright © 2004 European Psychiatric Association

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References

Bassett, ASChow, EWWeksberg, R.Chromosomal abnormalities and schizophrenia. Am J Med Genet 2000;97:45–51.Google Scholar
Boer, HHolland, AWhittington, JButler, JWebb, TClarke, D.Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 2002;359:135–6.CrossRefGoogle ScholarPubMed
Casaubon, LKMelanson, MLopes-Cendes, IMarineau, CAndermann, EAndermann, F et al. The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet 1996;58:28–34.Google ScholarPubMed
Descheemaeker, MJVogels, AGovers, VBorghgraef, MWillekens, DSwillen, A et al. Prader–Willi syndrome: new insights in the behavioural and psychiatric spectrum. J Intellect Disabil Res 2002;46:41–50.CrossRefGoogle ScholarPubMed
Kausch, KHaaf, TSchmid, M.Duplication 8q24.2→qter and 15q14→pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation. Am J Med Genet 1988;31:981–5.CrossRefGoogle Scholar
Liu, CMHwu, HGLin, MWOu-Yang, WCLee, SFFann, CS et al. Suggestive evidence for linkage of schizophrenia to markers at chromosome 15q13–14 in Taiwanese families. Am J Med Genet 2001;105:658–61.CrossRefGoogle ScholarPubMed
Olander, EStamberg, JSteinberg, LWulfsberg, EA.Third Prader–Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15. Am J Med Genet 2000;93:215–8.3.0.CO;2-K>CrossRefGoogle ScholarPubMed
Stöber, GSaar, KRüschendorf, FMeyer, JNürnberg, GJatzke, S et al. Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15. Am J Hum Genet 2000;67:1201–7.Google ScholarPubMed
Verhoeven, WMCurfs, LMTuinier, S.Prader–Willi syndrome and cycloid psychoses. J Intellect Disabil Res 1998;42:455–62.Google ScholarPubMed
Vogels, AMatthijs, GDevriendt, KLegius, EGovers, VDescheemaeker, MJ et al. Psychosis in Prader Willi syndrome and chromosomal 15 maternal uniparental disomy. Am J Med Genet 2002;114:195.Google Scholar
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