Th2L03 Human karyotype


Medicine Y1 (Theme 2 | Genetics) Mind Map on Th2L03 Human karyotype, created by Emma Allde on 22/08/2016.
Emma Allde
Mind Map by Emma Allde, updated more than 1 year ago
Emma Allde
Created by Emma Allde over 7 years ago

Resource summary

Th2L03 Human karyotype
  1. 46 chromosomes
    1. 23 from each parent
      1. 22 pairs of autosomes
        1. One pair of sex chromosomes (XX or XY)
        2. Assessing chromosomes
          1. Staining from metaphase spreads
            1. G-banding
              1. Chromosomes are stained with Giesma dye to expose light and dark bands
                1. Pattern is characteristic for each chromosome pair
              2. Cytogenetics
                1. study of genetic component of a cell through the visualisation and analysis of chromosomes
                  1. Human chromosomes are characterised by
                    1. Size
                      1. Short arm of chromosome, p
                        1. Long arm of chromosome, q
                        2. Pattern of G-bands
                          1. Location of the centromere
                            1. Metacentric chromosome
                              1. Chromosome in which the two chromosome arms are approximately the same length and centromere is located in the middle of the chromosome
                                1. e.g. chromosome 3
                              2. Submetacentric chromosome
                                1. Chromosome in which the centromere is displaced toward one end, producing a short arm and a long arm
                                  1. e.g. chromosome 17
                                2. Acrocentric chromosome
                                  1. Characterized by the centromere position very near the end of the chromosome with the short arm composed of highly repetitive (satellite) DNA
                                    1. Stalks formed
                          2. Consequence of abnormal karyotype (out of 1,000,000 conceptions)
                            1. 850K live births
                              1. 75K have chromosomal abnormalities
                                1. 39K trisomics
                                  1. Humans who have gained an extra autosome
                                    1. do not survive development minus a few exceptions on the smallest chromosomes
                                      1. Trisomy 13, 18, 21
                                  2. 13.5K XO
                                    1. 12,750 triploids
                                      1. a polyploid that has three complete haploid sets of chromosomes
                                      2. 4,5 K tetrapolids
                                        1. organisms with 4 haploid chromosome sets
                                        2. 5,2K other
                                        3. 833K children
                                          1. 17K perinatal deaths(around the time of birth)
                                          2. 150K spontaneous abortions
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