Approach to rare monogenic and chromosomal disorders
Part 1. Genetics
1.6. Genetic Medicine and Clinical Genetics
Published Online: 15 OCT 2004
Copyright © 2005 John Wiley & Sons, Ltd
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
How to Cite
Williams, M. S. 2004. Approach to rare monogenic and chromosomal disorders. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:67.
- Published Online: 15 OCT 2004
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.
- single gene disorder;
- Mendelian disorder;
- differential diagnosis;
- inborn error of metabolism