In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warburton,
attended the Tenth International Workshop on Human Gene Mapping. The meeting
was held at Yale University in celebration of the first such event, which also took
This meeting was not open to the general public; one had to have contributed to
mapping a gene to be permitted to attend. The posters, of course, were therefore all
related to gene mapping, and many were covered with pretty, colorful pictures of a
novel, fluorescent application of an old technology, in situ hybridization. Walking
through the room, Dorothy remarked that, because of this new FISH technique, chromosomes,
which had become yesterday’s news, were once again “back in style.”
Approximately three years later, a commercial genetics company launched a FISH
assay for prenatal ploidy detection. A substantial number of cytogeneticists across the
country reacted with a combination of outrage and panic. Many were concerned that
physicians would be quick to adopt this newfangled upstart test and put us all on the
unemployment line. They did not at the time realize what Dorothy instinctively already
knew—that FISH would not spell the doom of the cytogenetics laboratory, but it would,
rather, take it to new heights. In the early 1990s we didn’t know where FISH would end
up being performed, but because of the number of FISH applications that require metaphase
chromosomes, it has landed, either literally or functionally, squarely in the cytogenetics
laboratory, securing its place in an increasingly “molecularized” laboratory environment.
Add to this the explosion of cytogenetic and FISH data to become available in oncology in
recent years, and it becomes apparent that chromosomes are here to stay.
This brings us to the revision of The Principles of Cytogenetics. After the first
edition was printed, it seemed possible that we had achieved our goal of assembling the
basic concepts of clinical cytogenetics for the “end user” physician or student who
needed to understand what we do, and that perhaps no update would be necessary.
However, FISH and cancer cytogenetics continued to march on, and new data have
become available even for such basic concepts as chromosome rearrangements, sex
chromosome abnormalities, and autosomal aneuploidy. Combine these with all that
has been learned about uniparental disomy and imprinting in the last five years, plus
the regulatory changes we are all subject to, and it becomes obvious that what was
needed was not a second printing, but a second edition.