Diagram of a replicated and condensed metaphase eukaryotic chromosome. (1) Chromatid – one of the two identical parts of the chromosome after S phase. (2) Centromere – the point where the two chromatids touch. (3) Short (p) arm. (4) Long (q) arm.
Chromosomes are normally visible under a light microscope only when the cell is undergoing the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). Before this happens, every chromosome is copied once (S phase), and the copy is joined to the original by a centromere, resulting either in an X-shaped structure (pictured to the right) if the centromere is located in the middle of the chromosome or a two-arm structure if the centromere is located near one of the ends. The original chromosome and the copy are now called sister chromatids. During metaphase the X-shape structure is called a metaphase chromosome. In this highly condensed form chromosomes are easiest to distinguish and study. In animal cells, chromosomes reach their highest compaction level in anaphase during segregation.
Chromosomal recombination during meiosis and subsequent sexual reproduction play a significant role in genetic diversity. If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell may undergo mitotic catastrophe and die. Mutations in the cell can allow it to inappropriately evade apoptosis and lead to the progression of cancer.
Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. Others use the concept in a narrower sense, to refer to the individualized portions of chromatin during cell division, visible under light microscopy due to high condensation.
Emilio Battaglia (1917-2011) points out that over time many of the most familiar caryological terms have become
inadequate or illogical or, in some cases, etymologically incorrect so that they should be replaced
by more adequate alternatives suggested by the present scientific progress. The author has been
particularly disappointed by the illogicality of the present chromosomal (chromatin-chromosome)
terminology based on, or inferred by, two terms, Chromatin (Flemming 1880) and Chromosom (Waldeyer
1888), both inappropriately ascribed to a basically non coloured state.