title: Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.
abstract: We report on a young woman with Jacobsen syndrome (JBS) who was admitted to our psychiatric department because of a bipolar affective disorder (BPAD). Chromosome analysis was performed due to the fact that she had mental retardation, short stature, and subtle facial anomalies. A deletion of the distal long arm of chromosome 11 was found. A detailed mapping of the deletion breakpoint by quantitative real time PCR revealed a true terminal 11q deletion of approximately 8 Mb corresponding to the karyotype 46,XX,del(11)(q24.2). Polymorphic DNA marker analysis showed that the deletion is located on the paternal chromosome. Additionally, laboratory investigations revealed a low platelet count and magnetic resonance imaging of the brain showed white matter T2 hyperintensities in frontotemporal regions, which are unlikely to result from a demyelinating process as indicated by localized proton magnetic resonance spectroscopy. To our knowledge, this is the first report describing a BPAD in a case with JBS.
authors.affiliation: Institute of Human Genetics, Göttingen, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Böhm
authors.forename: K
authors.initials: K
authors.lastname: Hoffmann
authors.forename: F
authors.initials: F
authors.lastname: Laccone
authors.forename: B
authors.initials: B
authors.lastname: Wilken
authors.forename: P
authors.initials: P
authors.lastname: Dechent
authors.forename: J
authors.initials: J
authors.lastname: Frahm
authors.forename: I
authors.initials: I
authors.lastname: Bartels
authors.forename: S K
authors.initials: SK
authors.lastname: Bohlander
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001714:Bipolar Disorder / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D010976:Platelet Count; D011596:Psychomotor Disorders / Q000235:genetics; D011859:Radiography; D013577:Syndrome