American Journal of Medical Genetics 72:250 (1997)
Book Review
CHROMOSOME ABNORMALITIES AND
GENETIC COUNSELING
By R.J.M. Gardner and G.R. Sutherland
New York: Oxford University Press, 1996, 478 pp.
As a genetic counselor working with patients and
families in pediatric and adult genetics clinics, I find
Chromosome Abnormalities and Genetic Counseling to
be a very useful reference. I regularly use the sections
regarding occurrence/recurrence when speaking with
families about chromosome rearrangements, both de
novo and familial. The expanded information in this
second edition regarding specific translocations and
breakpoints is especially helpful.
The basic concepts section is a very good introduction
to the field of cytogenetics for those with no previous
study in this area. In the remaining sections, each
chapter is organized with an introductory biology sec-
tion containing scientific information about the chapter
topic followed by a section discussing issues specific to
genetic counseling. The genetic counseling section is
organized using the same subheadings as the preced-
ing biology section, enabling ease in accessing both bio-
logical and recurrence data for use in clinical practice.
This organizational plan also makes the volume an ap-
propriate text for training genetic counselors and cyto-
genetic technologists, and for teaching basic science
courses.
Expansion of the discussion of issues related to ge-
netic counseling greatly improves the usefulness of this
© 1997 Wiley-Liss, Inc.
edition in clinical settings. Of specific interest are 1)
the inheritance of a balanced translocation and the pos-
sibility for a child to have an anomaly not noted in the
carrier parent, 2) interchromosomal effects, 3) X-
autosome translocations, 4) insertions, and 5) X micro-
deletions. This volume also benefits from the addition
of new topics including uniparental disomy (UPD), ex-
panded CCG repeats and hypermethylation in the frag-
ile XA syndrome, microdeletions, and chromosome ab-
normalities detected at prenatal diagnosis. There are
many new figures that combine a diagram of a particu-
lar abnormality with photographic examples of that ab-
normality. The appendices are useful and interesting,
though a glossary would be a good addition, especially
when using this volume as a text.
On the whole, this second edition of Chromosome Ab-
normalities and Genetic Couseling is a marked im-
provement on the first edition and is a welcome re-
placement. The authors have included useful and di-
verse references that, in themselves, are of value to the
individual who desires greater detail. Those who have
found the first edition helpful will be well pleased with
the second edition. Those who have not thus far been
exposed will benefit from this edition.
Susan Hassed
University of Arkansas for
Medical Sciences
Little Rock, Arkansas