Chromosomal abnormalities result from mutations which change the number of
chromosomes (numerical abnormalities) or change the structure of the chromosome
(structural abnormalities). They may alter the ability of the cell to survive
and function.
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When numerical abnormalities occur in the germ cells (i.e. sperm and egg
cells) or during the very early stages of development of the foetus they may
result in miscarriage or in a developmental abnormality such as Down’s syndrome.
Structural chromosome abnormalities occurring in germ cells may have similar
effects. In some somatic cells (i.e. body cells which are not
reproductive cells) numerical or structural abnormalities may lead to the
initiation or progression of cancer.
