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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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