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The Principles of Clinical Cytogenetics

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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 place there.

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.
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