ISCN 2005. An International System for Human Cytogenetics Nomenclature

ISCN 2005. An International System for Human Cytogenetics Nomenclature

Cook, D J

ISCN 2005. An International System for Human Cytogenetics Nomenclature L G. Shaffer, N. Tommerup (eds). Basel: Karger, 2004:130pp. ISBN 3-8055-8019-3. euro50.

Cytogenetics is concerned with the alterations in chromosome number and structure that can be visualised microscopically, rather than the changes in the sequence of bases that is the realm of molecular biology. This book is an update of the nomenclature for naming such chromosomal disorders. The previous nomenclature was published by the ISCN 10 years ago in 1995. The extensive revisions of this latest book show the explosion of interest and knowledge that has occurred in Cytogenetics in the past decade.

The opening chapter is a historical review of the past 50 years, from the time in 1956 when the number of human chromosomes was correctly identified as 46 instead of the erroneous 48 chromosomes previously accepted. The book also covers the increasing degree of fine structure that now can be visualised using modern techniques. It is this increasing resolution of chromosomal structure that makes an update in the nomenclature essential.

The book covers not only the obvious numerical and structural abnormalities but also the uncertainty of band designation, chromosomal abnormalities in neoplasia and the nomenclature associated with in situ hybridisation studies. Many of the chapters begin with useful overviews of the general principles of the nomenclature associated with particular chromosomal aberrations and even include an overview of the techniques used in the identification of the aberrations. The chapters then give useful worked examples of the nomenclature and their meanings. It is in these worked examples that it is possible to see the complexity and variety of abnormalities that now can be recognised.

In its treatment of the nomenclature, the book is both comprehensive and accurate but it means that it is much more of a reference than a book to be read at a single sitting. While these lists of examples do not make really exciting reading they are invaluable as they make the principles of nomenclature clear.

While most biologists and medical technologists would have little difficulty in deciphering a karyotype description of 47,XX,+21 it seems likely that most would need this book to understand 46XY,t(5;6)(5pter[arrow right]raquo;5q13[four dots above]6q15[arrow right]gt;6q23[four dots above]5q23[arrow right] 5qter;6pter[arrow right]6q15[four dots above]5q13[arrow right]5q23[four dots above]6q23[arrow right]6qter). This particular abnormality occurs on page 79 if you would like clarification.

As a book for cytogeneticists it might be expected that it would only be of interest to those actively working in a cytogenetics laboratory, but that would be a mistake. The book contains the basic language needed to understand the chromosomal disorders not only of whole human beings but also the chromosomal disorders that are a major feature of many malignant diseases. As such, this book can be recommended as being a useful, perhaps even essential, reference for those concerned with histopathology, cytology and haematology.

D. J. Cook

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