Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics)

Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. These families may themselves have had a child affected with a chromosome condition; or, there may have been a history elsewhere in the family. The presentation may have been due to infertility or reproductive loss. Questions may include the following: What is known about this condition? What caused this to happen? Is it likely to happen again? If so, is there a way to prevent it from happening again? The power of molecular approaches to chromosome analysis, coming to be routinely available in this second decade of the twenty-first century, has brought to our knowledge many new “chromosomal syndromes” to add alongside those long known from the days of classical cytogenetics. This new knowledge has increased our ability to answer the questions that families may have; but equally, it has raised challenges in interpretation, as molecular karyotyping has revealed more complexity in the way the human genome is constructed. This book distils the knowledge that has evolved in recent and olden times, and it presents the information in a way that will be helpful to the practitioner. In particular, the risks of recurrence, or of occurrence, of a particular chromosome disorder are clearly set forth. The application of chromosomal knowledge to reproductive conditions, both diagnostically and in management, is rehearsed. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with guidance on their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this new edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication, It is, as ever, essential reading for the field. New To This Edition Thoroughly updated, building on the beloved four previous editions, Provides answers and guidance to practically every chromosomal question the counselor is likely to encounter in the clinic, Extensive listing of deletion and duplication syndromes, Addresses the challenging issue of copy number variants, Includes overview of the roles of new molecular methodologies in prenatal and preimplantation diagnosis Book jacket Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.