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