The third edition of this outstanding text is an essential resource for counselling for families with chromosome abnormalities. This book has been extensively updated since the previous edition, with new sections on gonadal cytogenetic damage from exposure to extrinsic agents and pre-implantation genetic diagnosis and substantial revisions to the chapters on uniparental disomy and prenatal diagnosis. Data on individual chromosome abnormalities have been listed for several types of aberrations including autosomal ring chromosomes, uniparental disomy states, and mosaicism for an autosomal chromosome. This feature makes the text a comprehensive reference that covers all aspects of clinical cytogenetics with the exception of cancer cytogenetics. The illustrations include colour plates and computer enhanced figures that facilitate visualisation of the chromosome abnormalities. The authors achieve all this using a very readable style.

This book is particularly strong concerning the mechanistic aspects of cytogenetic rearrangements and also the consequences of parental chromosome abnormalities (for example, autosomal reciprocal translocations) for childbearing. Aspects of counselling for chromosome aberrations are also provided in an interesting and balanced manner. However, there is as yet relatively little information on comparative genomic hybridisation and array comparative genomic hybridisation, two extremely important cytogenetic techniques that are likely to be extensively used in the future. In addition, the discussion on chromosomal and microdeletion syndromes is largely centred on the cytogenetic aspects of these conditions, in keeping with the focus of the book. Still, this book remains a compulsory text for cytogeneticists, geneticists, and genetic counsellors in training and is highly suitable as a reference for other health professionals who encounter patients and families with chromosome abnormalities.