Genetic diseases in humans are caused due to abnormalities in genes or chromosomes. Such defects can be caused by the following mechanisms:
Mutations: These are sudden inheritable changes in the nucleotide sequence of a gene.
Aneuploidy: Aneuploidy is caused when there are abnormal number of chromosomes in an organism. This could be due to loss of a chromosome (monosomy) or presence of extra copy of a chromosome (trisomy, tetrasomy, etc.)
Deletions: Loss of a part of chromosome as in the case of Jacobsen syndrome.
Duplications: Duplication of a portion of chromosome that results in extra amount of genetic material.
Inversions: Inversion of the nucleotide sequence because a portion of chromosome has broken off, got inverted and reattached at the original location of the chromosome.
Translocations: When a portion of chromosome has got transferred on to some other chromosome. Sometimes translocation can take place between two chromosomes, in which case they interchange chromosome segments. However, in some cases a portion of a chromosome may simply get attached to another chromosome.

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