BIO 260 Chromosome Alterations
1. Chromosome Alterations: consists of a deletion, duplication, inversion, translocation. this is where
pieces and not the whole chromosome are altered
2. 1) Rearrangements
2) Aneuploidy
3) Polyploidy: The 3 types of chromosome alterations
3. Chromosome Rearrangements: Changes in chromosome structure
4. duplication, deletion, inversion, and translocation: Types of chromosome rearrangements
parts of a chromo-
5. duplication chromosomal mutation: a mutation that produces extra copies of
some
6. deletion chromosomal mutation: a mutation that involves the loss of all or part of a chromosome
1/5
, 7. inversion chromosomal mutation: a mutation that reverses the direction of par ts of a chromosome
8. Translocation chromosomal mutation: a segment of a chromosome breaks off and attaches to a
chromosome breaks off and attaches to a non-homologous chromosome
- genes change between non homologous chromosomes
9. Homologous DNA: identical sequence in another chromosome.
10. Oncogenes: genes that cause cancer by blocking the normal controls on cell reproduction
11. Fragile Sites: Duplications of A-T rich region of chromosome results in fragile section of chromosome which
can break during cell division.
12. Fragile X Syndrome: A genetic disorder involving an abnormality in the X chromosome, which becomes
constricted and often breaks.
-Large, protruding ears (both)
- Long upper jaw (vertical maxillary excess)
- High-arched palate (related to the above)
- 'double-jointed'
- Postpubescent macroorchidism (large testicles)
2/5
1. Chromosome Alterations: consists of a deletion, duplication, inversion, translocation. this is where
pieces and not the whole chromosome are altered
2. 1) Rearrangements
2) Aneuploidy
3) Polyploidy: The 3 types of chromosome alterations
3. Chromosome Rearrangements: Changes in chromosome structure
4. duplication, deletion, inversion, and translocation: Types of chromosome rearrangements
parts of a chromo-
5. duplication chromosomal mutation: a mutation that produces extra copies of
some
6. deletion chromosomal mutation: a mutation that involves the loss of all or part of a chromosome
1/5
, 7. inversion chromosomal mutation: a mutation that reverses the direction of par ts of a chromosome
8. Translocation chromosomal mutation: a segment of a chromosome breaks off and attaches to a
chromosome breaks off and attaches to a non-homologous chromosome
- genes change between non homologous chromosomes
9. Homologous DNA: identical sequence in another chromosome.
10. Oncogenes: genes that cause cancer by blocking the normal controls on cell reproduction
11. Fragile Sites: Duplications of A-T rich region of chromosome results in fragile section of chromosome which
can break during cell division.
12. Fragile X Syndrome: A genetic disorder involving an abnormality in the X chromosome, which becomes
constricted and often breaks.
-Large, protruding ears (both)
- Long upper jaw (vertical maxillary excess)
- High-arched palate (related to the above)
- 'double-jointed'
- Postpubescent macroorchidism (large testicles)
2/5
