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6092674
Th2L03 Human karyotype
Descrição
Medicine Y1 (Theme 2 | Genetics) Mapa Mental sobre Th2L03 Human karyotype, criado por Emma Allde em 22-08-2016.
Sem etiquetas
medicine y1
theme 2 | genetics
Mapa Mental por
Emma Allde
, atualizado more than 1 year ago
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Criado por
Emma Allde
mais de 7 anos atrás
56
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Resumo de Recurso
Th2L03 Human karyotype
46 chromosomes
23 from each parent
22 pairs of autosomes
One pair of sex chromosomes (XX or XY)
Assessing chromosomes
Staining from metaphase spreads
G-banding
Chromosomes are stained with Giesma dye to expose light and dark bands
Pattern is characteristic for each chromosome pair
Cytogenetics
study of genetic component of a cell through the visualisation and analysis of chromosomes
Human chromosomes are characterised by
Size
Short arm of chromosome, p
Long arm of chromosome, q
Pattern of G-bands
Location of the centromere
Metacentric chromosome
Chromosome in which the two chromosome arms are approximately the same length and centromere is located in the middle of the chromosome
e.g. chromosome 3
Submetacentric chromosome
Chromosome in which the centromere is displaced toward one end, producing a short arm and a long arm
e.g. chromosome 17
Acrocentric chromosome
Characterized by the centromere position very near the end of the chromosome with the short arm composed of highly repetitive (satellite) DNA
Stalks formed
Consequence of abnormal karyotype (out of 1,000,000 conceptions)
850K live births
75K have chromosomal abnormalities
39K trisomics
Humans who have gained an extra autosome
do not survive development minus a few exceptions on the smallest chromosomes
Trisomy 13, 18, 21
13.5K XO
12,750 triploids
a polyploid that has three complete haploid sets of chromosomes
4,5 K tetrapolids
organisms with 4 haploid chromosome sets
5,2K other
833K children
17K perinatal deaths(around the time of birth)
150K spontaneous abortions
Anexos de mídia
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