伴有9号染色体短臂缺失的面肩肱型肌营养不良症
Facioscapulohumeral muscular dystrophy with chromosome 9p deletion.
作者信息
Ueyama H, Kumamoto T, Mita S, Kimura E, Nakagawa M, Uchino M, Ando M
机构信息
First Department of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan.
出版信息
Neurology. 1996 Feb;46(2):566-9. doi: 10.1212/wnl.46.2.566.
We report a 31-year-old man with facioscapulohumeral muscular dystrophy who had congenital anomalies and mental retardation. Southern blot analysis, using the probe p13E-11, displayed an abnormal EcoRI DNA fragment that reflect DNA rearrangements in facioscapulohumeral muscular dystrophy. In addition, high-resolution cytogenetic study revealed an interstitial deletion of the short arm chromosome 9: 46,XY,del(9)(p.22.1p24.1).
我们报告一名患有面肩肱型肌营养不良症的31岁男性，他同时伴有先天性异常和智力发育迟缓。使用探针p13E-11进行的Southern印迹分析显示出一条异常的EcoRI DNA片段，这反映了面肩肱型肌营养不良症中的DNA重排。此外，高分辨率细胞遗传学研究揭示了9号染色体短臂的间质缺失：46,XY,del(9)(p.22.1p24.1)。
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