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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.

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.[1]

References

  1. Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. Böhm, D., Hoffmann, K., Laccone, F., Wilken, B., Dechent, P., Frahm, J., Bartels, I., Bohlander, S.K. Am. J. Med. Genet. A (2006) [Pubmed]
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