Miller G, Mowrey P N, Hopper K D, Frankel C A, Ladda R L
Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
Am J Med Genet. 1990 Sep;37(1):128-32. doi: 10.1002/ajmg.1320370130.
We report a mother and son with a deletion at 18q22.3. Both have the typical manifestations of the 18q- syndrome. In addition, both have an action tremor which became apparent in childhood. The mother subsequently developed chorea and dysmetria in late adolescence. Magnetic resonance imaging of their brains showed poor myelination of the central white matter tracts with relatively normal myelination of the corpus callosum. We propose that these neurologic findings are most likely due to a failure of expression of the myelin basic protein gene.
我们报告了一对患有18q22.3缺失的母子。两人均有典型的18q-综合征表现。此外，两人都有一种动作性震颤，在儿童期就已明显。母亲在青春期后期出现了舞蹈症和辨距不良。他们的脑部磁共振成像显示，中央白质束髓鞘形成不良，而胼胝体髓鞘形成相对正常。我们认为，这些神经学发现很可能是由于髓鞘碱性蛋白基因表达失败所致。
