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医学遗传学人类染色体与染色体病
Acrocentric Submetacentric (13, 14, 15, 21, 22, Y) (2, 4-12, 17, 18, X)
Denver System
The karyotype is a photograph of all of the chromosomes of an individual cell; the term covers the number, relative sizes and structure of the chromosomes.
核型:一个体细胞中的全部染色体,按其大 小、形态特征顺序排列所构成的图像。
Denver System
Chromosome can be distinguished by the relative sizes and the position of the centromere.
Metacentric (1, 3,16, 19, 20)Dark Ages
Painter TS. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool. 1923; 37: 291-336
Dark Ages Hypotonic Period
Hsu TC. Mammalian chromosomes in vitro. I. The karyotype of man. J Hered. 1952; 43: 167-172 Tjio JH, Levan A. The chromosome number of man. Am J Obstet Gynecol. 1956; 130: 723-724
Denver System
The karyotype is a photograph of all of the chromosomes of an individual cell; the term covers the number, relative sizes and structure of the chromosomes.
Q-banding:QM
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations.
Banding pattern(带型):treated with chemical dyes, 24 types of chromosomes appear its unique striations individually.
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations.
Karyotype analysis: arranging the chromosomes
of a cell into a karyotype, then analysis and compare with Denver system.
Denver System
Banding Pattern
Band(带): treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations.
Dark Ages
Hypotonic Period Trisomy Period Banding Era Molecular Era
Pardue ML, et al. Molecular hybridization of radioactive DNA to the DNA of cytological preparations. Proc. Natl. Acad. Sci. USA. 1969; 64: 600 - 604 Pinkel D, et al. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 1986; 83: 2934-2938.
Dark Ages
Hypotonic Period Trisomy Period Banding Era
Caspersson T, et al. Differential banding of alkylating fluorochromes in human chromosomes. Exp Cell Res. 1970; 60: 315-319
Dark Ages
Hypotonic Period Trisomy Period
Lejeune J, et al. Etude des chromosomes somatiques de neuf enfants mongoliens. G. R. Acad. Sciences. 1959; 248: 1721-1722 Ford CE, et al. A sex chromosomal anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet. 1959; 1: 711-713 Jacob PA, et al. A case of human intersexuality having a possible XXY sex determining mechanism. Nature. 1959; 183: 302-303.