👉 A term used in the field of genetics to describe a genetic variation that is caused by changes in one or more genes, leading to a change in the expression or function of a gene. This can result from mutations, deletions, duplications, or recombination events within a cell or organism.
Examples include:
The X chromosome in females carrying an X-linked recessive disorder
The Y chromosome in males carrying an autosomal dominant disorder
The deletion of a gene that