The scope of this text focuses on the practical topics that are receiving more and more emphasis in medical curriculums and medical practices on a daily basis. Basic concepts are introduced, but within the framework of commonly confronted clinical problems. Significant sections cover diagnosis, counseling and treatment of genetic disorders for which the mutation is known. Much of the second half of the book is devoted to the upcoming integration of genetic knowledge into medical practice, coupled with a review of the major advances in medical genetics. Boxed ‘Concept Questions’ allow the user to assimilate facts as they read through the text, with answers provided at the end of the chapter. ‘Disease Boxes’ test understanding of inheritability of both acquired and inherited diseases. Also included are standard family history algorithms for physicians and pedigree profiles for monogenic disorders..