胼胝体脂肪瘤伴神经管闭合不全性病变及13三体综合征
Lipoma of corpus callosum associated with dysraphic lesions and trisomy 13.
作者信息
Wainwright H, Bowen R, Radcliffe M
机构信息
Department of Anatomical Pathology, University of Cape Town Medical School, South Africa.
出版信息
Am J Med Genet. 1995 May 22;57(1):10-3. doi: 10.1002/ajmg.1320570104.
PMID:7645586
Abstract
We report on a further case of corpus callosal lipoma and frontal cranial defects. Most cases in the literature of corpus callosal lipoma in association with "dysraphic" lesions have been frontal in location. Malformation of the corpus callosum is said to be associated with 50% of these lipomas. Trisomy 13 was confirmed by the 13q14 cosmid probe on paraffin-embedded liver tissue.
摘要
我们报告了一例胼胝体脂肪瘤合并额颅骨缺损的病例。文献中报道的大多数胼胝体脂肪瘤合并“神经管闭合不全”病变的病例位于额叶。据说这些脂肪瘤中有50%与胼胝体畸形有关。通过石蜡包埋肝组织上的13q14黏粒探针证实了13三体综合征。
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