Karyotyping

For historical background regarding karyotyping, chromosome nomenclature, and further details for some of the methodologies presented in this chapter, the reader might wish to consult a number of publications (1 –5 ). Karyotyping is a process by which individual chromosomes are identified by a number of methodologies and then arranged accordingly into the 22 pairs of autosomes and the two sex chromosomes (X and Y) characteristic of the human genome (see Fig. 1 ) (3 ,4 ,6 ,7 ).