常染色体隐性或性连锁隐性：咨询难题。
Autosomal recessive or sex linked recessive: a counselling dilemma.
作者信息
Young I D, Nugent Z, Grimm T
出版信息
J Med Genet. 1986 Feb;23(1):32-4. doi: 10.1136/jmg.23.1.32.
Abstract
This paper discusses the difficult problem that arises when information is sought by female relatives of two or more brothers, each of whom has an identical but undiagnosed or 'new' syndrome, which is likely to be either autosomal recessive or sex linked recessive in inheritance. It is proposed that standard Bayesian methods may be applied in this situation thus incorporating the prior probability for each event with conditional probabilities based upon pedigree analysis.
摘要
本文讨论了一种难题，即当两个或更多兄弟的女性亲属寻求信息时会出现的情况，每个兄弟都患有相同但未确诊或“新”的综合征，其遗传方式可能是常染色体隐性遗传或性连锁隐性遗传。有人提出，在这种情况下可以应用标准的贝叶斯方法，从而将每个事件的先验概率与基于系谱分析的条件概率结合起来。
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Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn.
Clin Genet. 1976 May;9(5):479-82. doi: 10.1111/j.1399-0004.1976.tb01600.x.
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