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1959年以来细胞遗传学成为临床医学的一个重要诊断分支。同年报道了一些临床综合征染色体异常的重要发现:Lejeune等发现唐氏综合征中有一个多余的小近端着丝点染色体,Ford等报道Turner氏征患者只45个染色体及单个X染色体,Klinefelter综合征有一多余X染色体,睾丸女性化综合征有46,XY染色体组型,并描述了47,XXX综合征,报告了第1例嵌合现象-47,XXY/46,XXKlinefelter综合征。此后10年中又发现了100多种染色体异常,所用的技术以今日标准衡量似较为原始。 1970年Casperson等用芥子奎吖因(qainacrine mustard)染人体分裂中期染色体,在荧光的激发下,染色体全长呈现出特异的带,此发现在细胞遗传学上为一重要里程牌。1971年在为细胞遗
Since 1959 cytogenetics has become an important diagnostic branch of clinical medicine. In the same year, some important findings of chromosomal abnormalities in clinical syndromes were reported: Lejeune et al. Found an extra small centromere chromosome in Down’s syndrome and Ford et al. Reported only 45 chromosomes and a single X chromosome in Turner’s syndrome, and Klinefelter Syndrome has an extra X chromosome, testicular feminization syndrome 46, XY genome, and describes the 47, XXX syndrome, reported the first case of mosaicism -47, XXY / 46, XXKlinefelter syndrome. More than 100 chromosomal abnormalities were discovered in the next 10 years and the techniques used were more or less original by today’s standards. In 1970, Casperson et al. Used the qainacrine mustard to infect human metaphase chromosomes. Under the excitation of fluorescence, the full length of the chromosome showed a specific band, which was found to be an important milestone in cytogenetics. In 1971 for the cell left