Dystrophinopathy in a young boy with Klinefelter's syndrome
Dystrophinopathy in a young boy with Klinefelter's syndrome
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DOI：
10.1002/(sici)1097-4598(199806)21:6
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发表时间：
1998-06-01
期刊：
影响因子：
3.4
通讯作者：
Salvatore, F
中科院分区：
文献类型：
--
作者：
Santoro, L;Pastore, L;Salvatore, F
我们报告了第一例与克氏综合征相关的轻度肌营养不良症儿童（核型 47，XXY）。这位 3.5 岁的男孩出现了一些提示贝克尔肌营养不良症的症状。肌营养不良蛋白免疫染色和免疫印迹程序证实了诊断，但聚合酶链反应指导的基因分析未能揭示任何宏缺失。基于甲基化的测定没有显示优先的 X 失活。这证实了两条活性 X 染色体的共存，这两条染色体的色调是父系起源的），从而解释了这个受克兰费尔特综合征影响的孩子出现轻度肌营养不良症的原因。 (C) 1998 约翰威利父子公司
We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-year-old boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, but polymerase chain reaction-directed gene analysis failed to reveal any macrodeletion. Methylation-based assay did not show preferential X-inactivation. This confirmed the coexistence of the two active X-chromosomes tone of which was of paternal origin), thus accounting for the mild form of dystrophinopathy in this child affected by Klinefelter's syndrome. (C) 1998 John Wiley & Sons, Inc.