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Profiling a person’s chromosomes to look at their appearance and number.

Use in clinical context

Karyotyping can be used to look for large scale changes to the genome. These include aneuploidy conditions such as Trisomy conditions (for example, Down, Edwards and Patau syndromes) and sex chromosome deletion or duplications. In addition to changes in chromosome number, karyotypes can also be used to identify large deletions, duplications or translocations of sections of chromosomes, which can lead to conditions such as Cri du Chat and Leukaemia.

Last updated on 21st September, 2021