Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de Novo 11q terminal deletion
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de Novo 11q terminal deletion
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DOI：
10.1002/ajmg.a.31088
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发表时间：
2006-02-15
影响因子：
2
通讯作者：
Bohlander, SK
中科院分区：
文献类型：
--
作者：
Böhm, D;Hoffmann, K;Bohlander, SK
我们报告一位年轻女子与雅各布森综合征（JBS）谁是承认我们的精神科，因为双相情感障碍（BPAD）。由于她患有智力迟钝、身材矮小和面部细微异常，因此进行了染色体分析。结果发现，在该病例中，第11号染色体远端长臂有一处缺失，通过真实的时间PCR对缺失断裂点进行定位，发现11号染色体末端有一处约8 Mb的缺失，其核型为46，XX，del（11）（q24.2）。多态性DNA标记分析表明，该缺失位于父本染色体上。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区白色T2高信号，这不太可能是局部质子磁共振波谱显示的脱髓鞘过程所致。据我们所知，这是第一份报告描述了一个BPAD的情况下，与JBS。(c)2006威利-利斯公司
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 I I 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. (c) 2006 Wiley-Liss, Inc.