Weiss B J, Kamholz J, Ritter A, Zackai E H, McDonald-McGinn D M, Emanuel B, Fischbeck K H
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia 19104-6146.
Ann Neurol. 1991 Sep;30(3):419-23. doi: 10.1002/ana.410300316.
We have evaluated a young woman with segmental spinal muscular atrophy, who has a deletion of a portion of the long arm of chromosome 18. She also has vitiligo and lichen sclerosis et atrophicus. She has neither the facial dysmorphism nor the mental deficit usually associated with the 18q- syndrome. Magnetic resonance imaging scan of her brain demonstrates high signal intensity consistent with abnormal myelination. Southern blot analysis of her DNA demonstrates that the deletion includes the gene for human myelin basic protein. Neither spinal muscular atrophy nor this patient's skin manifestations have been previously reported in association with 18q-.
我们评估了一名患有节段性脊髓性肌萎缩症的年轻女性，她的18号染色体长臂有一部分缺失。她还患有白癜风和萎缩性硬化苔藓。她既没有通常与18q-综合征相关的面部畸形，也没有智力缺陷。她脑部的磁共振成像扫描显示高信号强度，与异常髓鞘形成一致。对她的DNA进行Southern印迹分析表明，该缺失包括人类髓鞘碱性蛋白基因。此前尚未有与18q-相关的脊髓性肌萎缩症或该患者皮肤表现的报道。
