Highly Commended in the Basic and Clinical Sciences category at the BMA Book Awards 2019

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.

"This is an excellent book and a vital piece of work for clinical geneticists and counsellors." - BMA reviewing panel, BMA Medical Book Awards 2019

"An essential resource. A compulsory text for cytogeneticists, geneticists, and genetic counselors in training, and highly suitable for as a reference for other health professionals who encounter patients and families with chromosome abnormalities." - BMJ