The number, shapes, and sizes of the metaphase chromosomes constitute the karyotype

When cells are in metaphase of mitosis, it is often possible to count and characterize their individual chromosomes. If a photomicrograph of the entire set of chromosomes is made, the images of the individual chromosomes can be manipulated to pair them and place them in an orderly arrangement. Such a rearranged photomicrograph reveals the number, shapes, and sizes of the chromosomes in a cell, which together constitute its karyotype (Figure 11.20). In humans, karyotypes can aid in the diagnosis of chromosomal abnormalities such as trisomies or translocations, and this has led to an entire branch of medicine called cytogenetics. However, as you will see in Chapter 15, chromosome analysis with the microscope is replaced in some cases by direct analysis of DNA.

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Figure 11.20 The Human Karyotype (A) Chromosomes from a human cell in metaphase. The DNA of each chromosome pair has a specific nucleotide sequence that is stained by a particular colored dye, so that the chromosomes in a homologous pair share a distinctive color. Each chromosome at this stage is composed of two chromatids, but they cannot be distinguished. At the upper right is an interphase nucleus. (B) This karyogram, produced by computerized analysis of the image on the left, shows homologous pairs lined up together and numbered, clearly revealing the individual’s karyotype.