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Case Reports
. 2004 May;19(3):179-81.
doi: 10.1016/j.eurpsy.2004.03.001.

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

Andreas Reif  1 , Wolfgang Kress, Karl Wurm, Jens Benninghoff, Bruno Pfuhlmann, Klaus-Peter Lesch
Affiliations
Case Reports

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

Andreas Reif et al. Eur Psychiatry. 2004 May.

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 susceptibility locus for psychosis.

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