2nd edition. Albert Schinzel. (Pp 966; SFr 397.) Berlin: Walter de Gruyter, 2001. ISBN 3-11-011607-3.

It is difficult to do justice to the scale of achievement that this book represents. Here, in a single volume, are the phenotypes associated with the great majority of cytogenetically visible unbalanced chromosome abnormalities. At the turn of the century, this volume contains much of the information gathered since the modern era of chromosomal pathology began with the identification of the extra chromosome 21 in Down syndrome in 1959.

The first edition in 1984 was an essential publication for both clinical genetic and cytogenetic departments. The new edition contains a great deal of additional information with many references as recent as 1998 and some from 1999. The new edition also follows the same overall pattern as the first, with the cytogenetic findings dictating the order of the clinical summaries; thus, the abnormalities are ordered first by chromosome number, secondly by the type of unbalanced rearrangement (monosomies, deletions, duplications, trisomies), and thirdly according …