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The presence of an abnormal number of chromosomes in a cell, which can be more or fewer than the normal number.

Use in clinical context

Cancer cells often show aneuploidy and this may have an influence on both tumour growth and progression, and response to therapy. There are some syndromes that are the result of aneuploidy, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau’s syndrome), and sex chromosome disorders such as Klinefelter syndrome and Turner syndrome. Aneuploidy can be identified using karyotyping, array CGH or sequencing.

Last updated on 27th May, 2020