Definition
An image of an organism’s chromosomes presented in their pairs from largest to smallest.
Use in clinical context
A karyotype can be used to look for large scale changes to the genome. These include aneuploidy conditions such as Trisomy conditions (Down, Edward’s, and Patau syndromes) and sex chromosome deletion or duplication. In addition to changes in chromosome number, karyotypes can also be used to identify deletions, duplications or translocations of large sections of chromosomes, which can lead to conditions such as Cri du Chat and Leukaemia.
Related terms
Aneuploidy | Cell | Chromosome | Deletions | Genome | Karyotyping | Translocation
