The Fifth Chapter Chromosome Disease
The Fifth Chapter Chromosome Disease
Contents Denver System Karyotype analysis Chromosome Abnormality Mechanism Chromosome Disease in Clinical Disjunction of balancing chromosome
Contents ➢ Denver System & Karyotype analysis ➢ Chromosome Abnormality & Mechanism ➢ Chromosome Disease in Clinical ➢ Disjunction of balancing chromosome
Denver System Karyotype analysis Dark Ages Painter TS.Studies in mammalian spermatogenesis.Il.The spermatogenesis of man.JExp Zool.1923;37:291-336
◆ Painter TS. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool. 1923; 37: 291-336 ➢ Dark Ages Denver System & Karyotype analysis
Denver System Karyotype analysis Dark Ages Hypotonic Period Hsu TC.Mammalian chromosomes in vitro.I.The karyotype of man.JHered.1952;43:167-172 Tjio JH,Levan A.The chromosome number of man.Am J Obstet Gynecol.1956;130:723-724
◆ 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 Denver System & Karyotype analysis
Denver System Karyotype analysis 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
➢ Trisomy Period ◆ Lejeune J, et al. Etude des chromosomes somatiquesde 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 Denver System & Karyotype analysis
Denver System Karyotype analysis 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
➢ Banding Era ◆ Caspersson T, et al. Differential banding of alkylating fluorochromes in human chromosomes.Exp Cell Res. 1970; 60: 315-319 ➢ Trisomy Period ➢ Hypotonic Period ➢ Dark Ages Denver System & Karyotype analysis
Denver System Karyotype analysis 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. US4.1986;83:2934-2938
➢ Molecular Era ◆ Pardue ML, et al. Molecular hybridization ofradioactive DNA to the DNA of cytological preparations. Proc. Natl. Acad. Sci. USA. 1969; 64: 600 - 604 ◆ Pinkel D, et al. Cytogenetic analysis using quantitative, highsensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 1986; 83: 2934-2938. ➢ Banding Era ➢ Trisomy Period ➢ Hypotonic Period ➢ Dark Ages Denver System & Karyotype analysis
Denver System Karyotype analysis 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
➢ 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. Denver System & Karyotype analysis
Denver System Chromosome can be distinguished by the relative sizes and the position of the centromere. 13 Metacentric Submetacentric Acrocentric (1,3,16,19,20) (2,4-12,17,18,X) (13,14,15,21,22,Y
➢ 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 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. Karyotype analysis:arranging the chromosomes of a cell into a karyotype,then analysis and compare with Denver system
Karyotype analysis: arranging the chromosomes of a cell into a karyotype, then analysis and compare 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