Medical Cytogenetics

727 Pages·2000·38.94 MB·English

MEDICAL
C ~ T ~ G E N E T I C S
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M E D I C ~ L
GENETICS
edited by
L, ~ a ~ k
Brown ~niversityS chool of Medicine
Rhode Island ~ e p a ~ ~oef ~neta lth
Providence, and
KRAM ~orporation
Barrin~onR, hode Island
MARCEL
MARCELD EKKERI,N C. NEWY ORK RASEL
0
DEKKER
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IS0B-N8 2: 47-1999-9 j
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Current printing (last digit):
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~RINTEIN~ T HE UNITED STATES OF AMERICA
To my family, without whom all worldly achievementsa re meaningless;
and to the memory o f my sons, Lancelot and Vincent, who died o f a rare
genetic disease contractedf rom parents born worlds apart and brought
together by destiny.
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In this age of electronic communication and rapid advancements in genetic
knowledge and technology, one might wonder about the usefulness of a
textbook in anyf ield of genetics. However,m any of the basic tenets of
genetics have stood the test of time. Understanding and applying of the
newest advances requires a sound appreciation of these basic tenets. This
book, edited by Hon Fong L. Mark, with chapters by recognized experts in
the field, provides a thorough and clear starting point for students new to
cytogenetics. At the same time, it provides complete coverage of the many
current applications of cytogenetics in medicine. These include a variety of
culturing and staining techniques as well as new methods of in situ hybrid-
ization ranging from simple chromosome identification with centromeric
cy-
satellite probes to the newest spectral array of the entire karyotype.
The format is well suited to allow the reader to grasp basic concepts.
There are helpful glossaries to ensure clear understanding of the factual
material and a current bibliography for those who want to read the original
sources of the material provided.
It has been within the last few decades that the correct number of
chromosomes in humans has been appreciated, that we have seen that sexual
dimorphism in mammals is caused by dimorphisms of sex chromosomes,
and that chromosomal analysis has been shown to have potential as a pow-
erful tool in molecular understanding of many forms of cancer. With the
advent of the polymerase chain reaction and other powerful tools for the
study of human diseases at the molecular level, some felt that these ad-
vancements signaled the demise of cytogenetics as a major player in the
study of human genetic disorders. Rather, cytogenetics has continued to
advance in technology and knowledge at a pace comparable to molecular
genetics, and the two have become wedded in a marriage in which each
partner is increasingly difficult to identify individually. Medical Cytogenetics
W
vi Foreword
provides an excellent resource to bring new students and old dogs into fas-
cinating fields of cytogenetics.
Thaddeus E. Kelly
Professor of Pediatrics
Director, Division of Medical Cytogenetics
University of Virginia Health Sciences Center
Charlottesville, Virginia
Pr eface
While preparing for the certification examination for the American Board of
Medical Genetics in Clinical Cytogenetics a number of years ago, my col-
leagues and I observed that, while there are numerous reference books and
technical texts on cytogenetics, books giving an overview of medical ge-
netics and clinical cytogenetics are at best few and at worst nonexistent.
There is a unique niche for such a text. Thus, this book provides an overview
of the field of cytogenetics in medicine, with an emphasis on the practice
of clinical cytogenetics in a variety of settings, such as a department of
pathology or pediatrics in an academic medical center, a government-spon-
sored laboratory, or a commercial enterprise.
The targeted audience for this book consists of physicians and scien-
tists in training or in practice, medical and advanced undergraduate and
graduate students interested in medical genetics, cytogeneticists studying for
the certifying examination in Clinical Cytogenetics offered every three years
by the American Board of Medical Genetics (ABMG), and board-certified
medical geneticists desiring a review of the field of cytogenetics for recer-
tification* and other purposes. It is for this audience that great pains have
been taken to compile a large number of practice questions following many
chapters, together with answers to these questions in a separate manual. For
the same reason, a glossary has also been compiled for each chapter. It is
hoped that other medical practitioners, such as pathologists, family medicine
physicians, internists, neurologists, occupational medicine physicians, he-
matologists, medical oncologists, pediatricians, endocrinologists, obstetri-
cians and gynecologists, maternal and fetal medicine physicians, urologists,
public health personnel, and other specialists will find this publication to be
a useful reference on cytogenetics as well.
*The Editor was a member of the seven-member national Recertification Committee of the
ABMG.
vi i