Suppr超能文献

[晶状体生物显微镜检查在某些遗传性疾病杂合子检测中的重要性,特别是强直性肌营养不良]

[The importance of biomicroscopic examination of the lens in the detection of heterozygotes for certain hereditary diseases, in particular, myotonic dystrophy].

作者信息

Pescia G, Emery A E

出版信息

J Genet Hum. 1976 Sep;24(3):227-34.

PMID:1003175
Abstract

Slit-lamp examination of the lens of 80 normal controls aged between 17 and 36 years has shown that the opacities are very common (91.5%). The total opacities count (TOC) varies between 0 and 109, with a mean value of 14.65 and a standard deviation of 18.43. The study of 10 families of myotonic dystrophy supports the value of such a test in early diagnosis of this condition. The value of the TOC in carrier detection of Lowe's syndrome and in the diagnosis of "formes frustes" of hereditary cataract is discussed. The possible application of this test in genetic counselling is stressed.

摘要

对80名年龄在17至36岁之间的正常对照者的晶状体进行裂隙灯检查发现,混浊非常常见(91.5%)。混浊总数(TOC)在0至109之间变化,平均值为14.65,标准差为18.43。对10个肌强直性营养不良家族的研究支持了该检查在这种疾病早期诊断中的价值。讨论了TOC在Lowe综合征携带者检测和遗传性白内障“顿挫型”诊断中的价值。强调了该检查在遗传咨询中的可能应用。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验