Cytogenetic Techniques in Diagnosing Genetic Disorders

When the discovery of giant banded, salivary chromosomes in Drosophila was made by Painter in 1934, it gave a tremendous impact to the cytological work carried out in Drosophila. This made it possible to identify the chromosomes individually and also to discern the specific segments of the chromosome. Followed by this, cytogenetics bloomed with the establishment of chromosome number in man as 46 in the year 1956. Since then, lot of advancements and improvements have taken place over the years and combination of techniques have made cytogenetics as an undisputable source in diagnosing the various genetic disorders and now, human cytogenetics has completed its glorious 50 years after the discovery of chromosome number in normal human cells. This chapter provides an insight into the fundamentals of cytogenetics and its importance in the diagnosis of commonly occurring syndromes and disorders.