Karyotyping is the process by which photographs of chromosomes are taken in order to determine the chromosome complement of an individual, including the number of chromosomes and any abnormalities. The term karyotype is also used for the complete set of chromosomes in a species or in an individual organism[1][2][3] and for a test that detects this complement or measures the number.

Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope. Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics.[4] The preparation and study of karyotypes is part of cytogenetics.

The study of whole sets of chromosomes is sometimes known as karyology. The chromosomes are depicted (by rearranging a photomicrograph) in a standard format known as a karyogram or idiogram: in pairs, ordered by size and position of centromere for chromosomes of the same size.

The basic number of chromosomes in the somatic cells of an individual or a species is called the somatic number and is designated 2n. In the germ-line (the sex cells) the chromosome number is n (humans: n = 23).[2]p28 Thus, in humans 2n = 46.

So, in normal diploid organisms, autosomal chromosomes are present in two copies. There may, or may not, be sex chromosomesPolyploid cells have multiple copies of chromosomes and haploid cells have single copies.

Karyotypes can be used for many purposes; such as to study chromosomal aberrationscellular function, taxonomic relationships, medicine and to gather information about past evolutionary events (karyosystematics).[5]


We will be adding more information in the future. Have questions or looking for guidance regarding a life-limiting diagnosis? Contact us here.

Glossary Quick Search