The conditions of chromosome 18 were first described in the 1960's. Initially, only large deletions and duplications could be detected. So, our early understanding of these conditions was limited to only those individuals that were tested and had large enough deletions. We tended to miss the milder cases or smaller deletions, because they would not have been tested.
As our ability to diagnose and characterize chromosome conditions has improved, so has our understanding of the chromosome 18 conditions. For example, as we move into the era of molecular medicine, we no longer describe breakpoints by chromosome band but by precise base pair location. We can study how smaller deletions affect an individual. Simultaneously, the ability to describe the various clinical features has improved as well. We can more fully appreciate the wide spectrum of features associated with these conditions.
Of course, the chromosome 18 conditions are not the only chromosome conditions to have benefited from these advances. In fact, major leaps have been made in the study of several other chromosome deletions. With this in mind, Dr. Cody was invited to serve as an editor of a special issue of the American Journal of Medical Genetics. This issue included an update of several of the "classic" deletion syndromes: 4p-, 5p-, 11q-, 18p-, and 18q-.
Team 18 authored the introduction as well as two of the manuscripts included in this special issue: 18p- and 18q-. These papers represent an exciting step forward for the Chromosome 18 Clinical Research Center. We've started to move beyond a simple description of features associated with a deletion of chromosome 18. In some cases, we are now able to link specific genes with specific medical findings. In other cases, we have found regions of the chromosome that are linked with known features of these deletions.
These manuscripts represent significant progress towards one of the Research Center's goals: to provide deletion-specific information to families. With this information, we hope that physicians and other health care providers will be able to provide accurate information about what to expect as well as to establish an appropriate screening and management plan.
One other important feature of this issue is that the images of the people with these conditions were taken by Rick Guidotti. This elevated the standards of the images used in medical journals to a new high. We hope the research community takes note. The cover includes one individual with each of the conditions - making 2 of our
young people cover models!!
We encourage families to read and share these papers. They can be accessed at these links:
