Böhm D, Hoffmann K, Laccone F, Wilken B, Dechent P, Frahm J, Bartels I, Bohlander S K
Institute of Human Genetics, Göttingen, Germany.
Am J Med Genet A. 2006 Feb 15;140(4):378-82. doi: 10.1002/ajmg.a.31088.
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.
我们报告了一名患有雅各布森综合征（JBS）的年轻女性，她因双相情感障碍（BPAD）入住我们的精神科。由于她存在智力发育迟缓、身材矮小和细微的面部异常，因此进行了染色体分析。结果发现11号染色体长臂远端缺失。通过定量实时PCR对缺失断点进行详细定位，发现了一个真正的11号染色体末端约8 Mb的缺失，对应核型为46,XX,del(11)(q24.2)。多态性DNA标记分析表明该缺失位于父源染色体上。此外，实验室检查显示血小板计数低，脑部磁共振成像显示额颞叶区域白质T2高信号，局部质子磁共振波谱显示这不太可能是由脱髓鞘过程导致的。据我们所知，这是第一份描述JBS患者出现BPAD的报告。
