在一个同父异母/同母异父半同胞的单代家系中对强直性肌营养不良进行症状前排除。
Presymptomatic exclusion of myotonic dystrophy in a one-generation pedigree of half-siblings.
作者信息
Ott J, Caesar J, Mächler M, Schinzel A, Schmid W
机构信息
Department of Psychiatry, Columbia University, New York, NY.
出版信息
Hum Hered. 1990;40(5):305-7. doi: 10.1159/000153950.
PMID:2265856
Abstract
An unusual one-generation family with myotonic dystrophy is presented, in which genetic counseling was successfully carried out. The probability of an informative result, before marker typing, is analytically derived and amounts to at least 40%.
摘要
本文介绍了一个患有强直性肌营养不良的不寻常的单代家族，其中成功进行了遗传咨询。在进行标记分型之前，通过分析得出获得有意义结果的概率至少为40%。
Zotero 插件