Date post: | 02-Jun-2015 |
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the CHROMOSOMEBiology 3 Kawashima
the CHROMOSOMESTRUCTURE
Biology 3 Kawashima
p
q
Human Mouse
the CHROMOSOMENUMERICAL ABERRATIONS
Biology 3 Kawashima
Aneuploidy•Numerical aberration of individual chromosome units
Euploidy•Numerical aberration of chromosome sets
Aneuploidy Euploidy1
2
3
4
5
1
3
4
5
1
2
3
4
5
1
2
3
4
5
1
2
3
4
5
1
2
3
4
5
3
n = 5; 2n = 10
Aneuploidy
HyperploidyTrisomy2n + 1
Tetrasomy2n + 2
HypoploidyMonosomy
2n - 1Nullisomy2n – 2 (0)
Euploidy
Monoploidyn
Diploidy2n
Polyploidyxn; x > 2
Monosomy
•Nondisjunction•Loss during anaphase•Autosome monosomy is lethal
Trisomy •Nondisjunction
Polyploidy•Retention of polar body•Fertilization by diploid sperm•Fertilization by two sperms
the CHROMOSOMESTRUCTURAL ABERRATIONS
Biology 3 Kawashima
•Deletion•Duplication•Inversion•Translocation•Insertion
Structural
Aberrations
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
Photo Credit:http://www.embryology.ch/anglais/kchromaber/abweichende02.html#deletion
the CHROMOSOMEKARYOTYPING
Biology 3 Kawashima
Down47, trisomy 21
Edwards47, trisomy 18
Patau47, trisomy 13
Cri du chat5p deletion
Prader-Willi15q partial
deletion
TurnerXO
Klinefelter47, XXY
Triple X47, XXX
Double Y47, XYY
Suggested Reference:Human Molecular Genetics 2
Chapters 2.3.1, 2.6.2, 2.6.3, 2.6.4
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=hmg&part=A127