Book Review
An excellent Brazilian book on human genetics
Priscila Guimarães Otto, Paulo Alberto Otto and Oswaldo Frota-Pessoa, 1998.
Genética Humana e Clínica. Editora Roca Ltda., São Paulo
This is an excellent book mostly on medical genetics, with emphasis on clinical problems. It deals with chromosomes, anomalies of autosomes, anomalies of sex chromosomes, the transmission of genes, dominant inheritance, recessive inheritance, X-linked inheritance, multifactorial mechanism, gene in populations, and the clinician and genetics, each subject occupying a chapter.
In spite of having over 300 pages, it is a rather incomplete book; as a matter of fact, no book of this size could claim to be a complete one. Such a book would have to be much larger and have many more authors. This means that after the explosive growth of genetics in the second half of the present century, it is impossible for three authors - even as brilliant as Otto, Otto and Frota-Pessoa - to write a book that would satisfy every specialist in every area of research in human genetics (including clinical genetics). Therefore, this book will be very important for undergraduate and graduate students as well as for scientists working on areas different from those so well covered by its table of contents.
The reviewer found a lot of minor defects in this book. Their number is so large and the defects are so small (almost insignificant) that this reviewer will not present here a complete list of these minor points of disagreement. This list will be sent to the authors with the hope that a second edition of the book will correct them. I just would like to point out, as regards some of these disagreements, that the gene is not a point (but a segment); characters are not transmitted from parents to offspring; the malformations of the thalidomide syndrome are not amputations but phocomelias; the famous X-linked ectodermal dysplasia is hypohidrotic (not anhidrotic); "cri-du-chat" should not be called "miado de gato"; consanguinity is not a synonym to consanguineous union; genetic risks should be stated per pregnancy, not as general risks; a genetic risk remains unchanged in spite of the change of our knowledge of it, etc.
In spite of all this, it is really a wonderful book, extremely well written and very readable. Congratulations to the authors and to the publisher.
Newton Freire-Maia
Depto. de Genética, UFPR, Curitiba
Publication Dates
-
Publication in this collection
23 Feb 1999 -
Date of issue
Sept 1998
