Ploidy

Ploidy is the number of sets of chromosomes in a cell. Usually a gamete (sperm or egg, which fuse into a single cell during the fertilization phase of sexual reproduction) carries a full set of chromosomes that includes a single copy of each chromosome, as aneuploidy generally leads to severe genetic disease in the offspring. The gametic or haploid number (n) is the number of chromosomes in a gamete. Two gametes form a diploid zygote with twice this number (2n, the zygotic or diploid number) i.e. two copies of autosomal chromosomes. For humans, a diploid species, n = 23. A typical human somatic cell contains 46 chromosomes: 2 complete haploid sets, which make up 23 homologous chromosome pairs.

Because chromosome number is generally reduced only by the specialized process of meiosis, the somatic cells of the body inherit and maintain the chromosome number of the zygote. However, in many situations somatic cells double their copy number by means of endoreduplication as an aspect of cellular differentiation. For example, the hearts of two-year-old children contain 85% diploid and 15% tetraploid nuclei, but by 12 years of age the proportions become approximately equal, and adults examined contained 27% diploid, 71% tetraploid and 2% octaploid nuclei.