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目前,在已知的人类遗传病中,由于染色体异常而引起的疾病有300余种。这类疾病患者,其细胞中的染色体都具有一定的数目或结构的变异。近年来由于技术革新,在细胞遗传学领域里发生了巨大的变化。广泛地使用分带技术对患有染色体缺陷的病人,甚至临床少见或不能识别的患者都能得以迅速的诊断。许多染色体异常患者都有神经系统症状,本文复习了大量新近有关文献,专门介绍一些较常见的染色体综合征在神经系统疾病中的表现。
At present, there are more than 300 kinds of diseases caused by chromosomal abnormalities among known human genetic diseases. Patients with these diseases, the chromosomes in their cells have a certain number or structural variation. In recent years due to technological innovation, great changes have taken place in the field of cytogenetics. Widespread use of the zonal technology in patients with chromosomal defects, even clinically rare or unrecognized patients can be quickly diagnosed. Many patients with chromosomal abnormalities have neurological symptoms. This article reviews a large body of recent literature that describes the performance of some of the more common chromosomal syndromes in neurological diseases.