Phenotypic abnormalities: Terminology and classification
Phenotypic abnormalities: Terminology and classification
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DOI：
10.1002/ajmg.a.20249
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发表时间：
2003-12-15
影响因子：
2
通讯作者：
Hennekam, RCM
中科院分区：
文献类型：
--
作者：
Merks, JHM;van Karnebeek, CDM;Hennekam, RCM
临床形态学已被证明对于成功描述数百个综合征以及作为检测(候选)基因的有力工具至关重要(Gorlin等人)。[20011]《头颈部综合症》；牛津：牛津大学出版社。页1页]。达到这一目标的主要方法是对患者进行仔细的临床评估，重点是先天性异常。对接受过儿童癌症治疗的患者进行类似的仔细体检，可能会发现同时存在的异常模式，并为致病基因提供线索。在过去，有几项研究描述了癌症患者中异常的发生率。然而，在大多数研究中，不可能指出记录的异常的生物学相关性，或判断它们的相对重要性。检测到的异常是常见的变异吗？因此它们是否应该被视为正常，或者它们是轻微的异常或真正的异常，表明可能的发育原因？对以下类别的项目进行分类：常见变异(表观发生障碍，患病率为4%)、轻微异常(表观发生障碍，患病率为4%
Clinical morphology has proved essential for the successful delineation of hundreds of syndromes and as a powerful instrument for detecting (candidate) genes (Gorlin et al. [20011; Syndromes of the Head and Neck; Oxford: Oxford University Press. 1 p]. The major approach to reach this has been careful clinical evaluations of patients, focused on congenital anomalies. A similar careful physical examination performed in patients, who have been treated for childhood cancer, may allow detection of concurrent patterns of anomalies and provide clues for causative genes. In the past, several studies were performed describing the prevalence of anomalies in patients with cancer. However, in most studies, it was not possible to indicate the biologic relevance of the recorded anomalies, or to judge their relative importance. Are the detected anomalies common variants, and should they thus be regarded as normal, or are they minor anomalies or true abnormalities, indicating a possible developmental cause? Classification of items in the categories of common variants (disturbances of phenogenesis with a prevalence >4%), minor anomalies (disturbances of phenogenesis with a prevalence