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1980年以来,临床遗传学研究进入到第三阶段,即利用早中期分裂相染色体高分辨显带技术以及细胞遗传学与分子生物学结合方法来识别染色体的微缺失,并进行基因制图。微缺失综合征微缺失综合征的常见特征是:在未知综合征病因学(或可能的病因学)之前,已识别其综合征的临床模式:(1)在染色体上有一个明显的而单独的缺失;(2)其中有些是从不常见的病例中,用细胞遗传学方法首次检测出的具有更复杂重排,而不是单纯缺失综合征。某些病例的复杂畸变总是发生在同一条染色体的相同区段上,这就使人设想,该片段的单纯缺失是产生病人的临床模
Since 1980, clinical genetics research has entered into the third stage, that is, the use of high-resolution banding technique of early-mid-split phase chromosomes and the combination of cytogenetics and molecular biology to identify chromosomal microdeletions and gene mapping. A common feature of microdeletion syndrome microdeletion syndrome is that the clinical pattern of its syndrome has been identified prior to the etiology (or probable etiology) of the unknown syndrome: (1) there is a distinct but separate Missing; and (2) some of them are uncommon cases with more complex rearrangements first detected by cytogenetics rather than simple deletion syndromes. In some cases, complex aberrations always occur on the same segment of the same chromosome, which leads to the idea that a simple deletion of the fragment will result in a patient’s clinical model