基本説明
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.
Full Description
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.
