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1986年,Schmickel将一组综合征的基本特征概括为邻接基因综合征(contiguous gene syndromes)。这组综合征包括那些可识别的畸形,这些畸形通常与智力低下、生长异常有关。这类综合征通常是散发的,偶而呈家族性发病。邻接基因综合征不同于典型的单基因遗传病,单基因遗传病病原学可通过在多个受累家系中观察疾病表型的分离情况来确定。此综合征也不同于用常规细胞学检查可见的由特殊染色体非整倍性引起的典型的染色体综合征。这些情况有时与微小的、但在细胞遗传学上可见的缺失或重复有关,也是在我们认识其特殊的不相同的染
In 1986, Schmickel summarized the basic characteristics of a group of syndromes as contiguous gene syndromes. These syndromes include those that are identifiable, often associated with mental retardation and abnormal growth. Such syndromes are usually exuded, occasionally familial disease. Adjacent genetic syndromes are distinct from typical single-gene genetic diseases and the etiology of single-gene inherited diseases can be determined by observing the separation of disease phenotypes in multiple affected families. This syndrome is also different from the typical chromosomal syndrome caused by a particular chromosomal aneuploidy that can be seen with routine cytology. These conditions are sometimes associated with minor but missing or duplicates that are cytogenetically detectable, and also when we recognize their distinctively different staining