Chromosome mutations are the second major source of genetic disorders.
These generally involve more than one gene.
There are four typical ways chromosome mutations occurs.
Deletion - A chuck of a chromosome is missing.
EXAMPLE: Cri du Chat Syndrome, a piece of chromosome number 5 is missing.
(Also known as the The Cat's Cry Syndrome)
Inversion - A piece of a chromosome is tuned upside down.
EXAMPLE: Hemophilia, genes are inverted on chromosome number 16.
(Instead of presenting as genes 1, 2, 3, 4 & 5, it appears, 5, 4, 3, 2 & 1)
Duplication - A piece of a chromosome is repeated.
EXAMPLE: - Charcot Marie Tooth Syndrome, duplication on chromosome 17.
(A chromosome that should read, gene 1, 2, 3, 4, 5 looks like 1, 2, 3, 1, 2, 3, 4, 5.)
Translocation - A piece of a chromosome breaks off of and attaches to a different chromosome.
EXAMPLE: - Philadelphia Syndrome, a piece of chromosome 22 breaks off and attaches to chromosome 9.
(This can also be isolated to the same chromosome, a piece could break off and reattach else where on the same pair.)
Generally these mutations and errors in chromosome numbers can be detected by preforming a karyotype of a person's chromosomes.
These errors would be like having several chapters missing from on of the books in the encyclopedia set.
