Vijay S. Tonk – författare

Clinical cytogenetics is a rapidly changing field. Today's tests are pressed into application almost before the overworked clinician or laboratory director may be aware they are available. Distinction between a normal variant and a clinically significant mutation is a crucial part of any test. Although chromosome banding techniques have been in practical use for more than 30 years, interpretation of striking variations in size and staining of known heteromorphic regions on human chromosomes remains problematic. Added to the classical heteromorphic regions is a growing class of new recognized euchromatic variants. Newer molecular and FISH technologies can help resolve the nature of unusual variants. At the same time they can be the source of new variants. For that reason there is a short section on FISH variants. This book is not a panacea. However, it does provide a comprehensive view of human chromosome heteromorphisms, their applications, and their often speculated roles in aberrant chromosome behaviour relating to abnormal phenotype, pregnancy loss and cancer.More significantly, the book is a pictorial atlas for common and unusual heteromorphisms and euchromatic variants as they have been studied both by classical banding techniques and by newer molecular or FISH technologies. To facilitate its use as a laboratory or clinical reference, plates in a pictorial section are organized by chromosome number with the most recent ISCN ideogram, summary and extensive list of references for each chromosome. A final pictorial section is devoted to FISH variants. The book is a work in progress, with submission of new variants encouraged for future editions.

This book is not a panacea. However, it does provide, for the first time in one place, a comprehensive view of human chromosome heteromorphisms, their applications, and their often speculated roles in aberrant chromosome behaviour relating to abnormal phenotype, pregnancy loss and cancer. More significantly, the book is a pictorial atlas for common and unusual heteromorphisms and euchromatic variants as they have been studied both by classical banding techniques and by newer molecular or FISH technologies. To facilitate its use as a laboratory or clinical reference, plates in a pictorial section are organized by chromosome number with the most recent ISCN ideogram, summary and extensive list of references for each chromosome. A final pictorial section is devoted to FISH variants. The book is a work in progress, with submission of new variants encouraged for future editions

This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. Thisbook should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.