文档介绍：Chromosome Disease
Medical ics
Painter TS. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool. 1923; 37: 291-336
Dark Ages
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
Hypotonic Period
Dark Ages
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.
Hypotonic Period
Dark Ages
Banding Era
Caspersson T, et al. Differential banding of alkylating fluorochromes in human chromosomes. Exp Cell Res. 1970; 60: 315-319
Hypotonic Period
Dark Ages
Trisomy Period
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. ic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 1986; 83: 2934-2938.
Hypotonic Period
Dark Ages
Banding Era
Trisomy Period
Karyotype analysis: arranging the chromosomes of a cell into a karyotype, then analysis pare with Denver system.
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.
Chromosome can be distinguished by the relative sizes and the position of the centromere.
Metacentric
(1, 3, 16, 19, 20)
Submetacentric
(2, 4-12, 17, 18, X)
Acrocentric
(13, 14, 15, 21, 22, Y)
Denver System
Denver System
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations.
Banding pattern:treated w