title: Duplication 15q14 --> pter: a rare chromosomal abnormality underlying bipolar affective disorder.
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.
authors.affiliation: Department of Psychiatry and Psychotherapy, Julius-Maximilians-University of Würzburg, Füchsleinstr. 15, 97080 Würzburg, Germany. a.reif@gmx.net
authors.forename: Andreas
authors.initials: A
authors.lastname: Reif
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kress
authors.forename: Karl
authors.initials: K
authors.lastname: Wurm
authors.forename: Jens
authors.initials: J
authors.lastname: Benninghoff
authors.forename: Bruno
authors.initials: B
authors.lastname: Pfuhlmann
authors.forename: Klaus-Peter
authors.initials: KP
authors.lastname: Lesch
mesh_terms: D000328:Adult; D001714:Bipolar Disorder / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D011218:Prader-Willi Syndrome / Q000150:complications / Q000235:genetics; D014055:Tomography, Emission-Computed; D014178:Translocation, Genetic / Q000235:genetics