Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling [Hardcover]

Chromosome Abnormalities and Genetic Counseling, 6th Editionis the genetics professional's definitive guide to navigating chromosome disorders and clinical questions posed by the families they impact. Thoroughly updated and building on the beloved five previous editions, the book includes three entirely new chapters on copy number variants, chromosomal phenotypes, and ethical and counseling issues.Chromosome abnormalities occur in about one in a hundred people, and present complex challenges for medical geneticists and genetic counselors. In addition to identifying chromosomal abnormalities, genetics professionals must explain the unexplainable, helping families understand why chromosome disorders occur and how likely they are to occur again.Chromosome Abnormalities and Genetic Counselingis the definitive guide to navigating chromosome disorders and clinical questions posed by the families they impact. It incorporates the latest advances in molecular technologies and prenatal diagnosis, while also revisiting the classical understanding of chromosomal pathology; the well-known trisomies, deletions, and duplication syndromes; and ways in which these may arise de novo or occur in the setting of a parental chromosome rearrangement. This new edition includes three entirely new chapters on copy number variants, chromosome abnormalities associated with selected phenotypes, and ethical and counseling issues.Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, the 6th edition ofChromosome Abnormalities and Genetic Counselingrepresents a leap forward in clinical understanding and communication. It is more than just a reference text; it is a holistic guide to thinking about these disorders, even as our technical understanding of them continues to evolve.PART ONE: BASIC CONCEPTS1. Elements of Medical Cytogenetics2. Chromosome Analysis3. The Origins and Consequenl“ˆ