Approach to rare monogenic and chromosomal disorders

While the scope of medical genetics has changed dramatically in the last 40 years, geneticists are still frequently called upon to evaluate patients with suspected monogenic or chromosomal disorders. This chapter will introduce the reader to the techniques used in the genetics clinic to arrive at a diagnosis. The importance of making a specific diagnosis will also be discussed. Keywords: chromosome; monogenic; single gene disorder; Mendelian disorder; dysmorphology; differential diagnosis; inborn error of metabolism