新生儿肌强直性营养不良的风险计算

• 作 者: 金宇红
• 出 处: 国外医学.遗传学分册
• 发表日期: 1985年02期
• 关键词: 肌强直 先证者 发病频率 风险计算 母体遗传 显性基因 常染色体 迟发型 复发风险 发病风险

由母体遗传的常染色体显性基因,可使儿童发生严重的新生儿型肌强直性营养不良,而不是迟发型的肌强直性营养不良。作者研究了22例新生儿型先证者和59例迟发型先证者的家系,确定了新生儿型的发病风险和复发风险。在新生儿型先证者的同胞中其发生频率为29%,同迟发型先证者同胞中新生儿型的发病频率5%比较,有显著差异。如将产程中死亡者也算在新生儿型病

The maternal genetic autosomal dominant gene can cause severe neonatal myotonic dystrophy in children rather than delayed myotonic dystrophy. The authors studied the families of 22 neonatal probands and 59 late-onset probands to determine the risk of neonatal morbidity and relapse. The frequency of occurrence was 29% in the siblings of the probands of neonates, compared with 5% of the neonates in the siblings of late-onset probands. There was a significant difference. Such as the process of death are also considered in neonatal disease