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A condition caused by changes to chromosome number or structure.

Use in clinical context

Changes to the chromosome number or structure usually involve large regions of the genome, covering several genes. As a result, these genes have either more or less copies in each cell than usual, which can lead to different chromosomal conditions. The exact condition depends on which chromosomes or parts of chromosomes are affected. For example, when part of chromosome 5 is missing, this results in Cri du chat syndrome, and when part of chromosome 15 is missing, this leads to Prader-Willi syndrome.

Related terms

Chromosome | Gene | Genome

Last updated on 2nd November, 2020