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Recently, the Chromosome 18 Clinical Research Center released management guidelines for many of the chromosome 18 conditions, including proximal and distal 18q-, 18p-, tetrasomy 18p, and ring 18. These guidelines are intended to be used by physicians and represent the culmination of several decades of research and our current understanding of these conditions. These guidelines are unique in that they are designed to give information specific to an individual's deletion. To develop the guidelines, we reviewed the literature as well as our own database to determine which concerns are most likely to present as well as the most appropriate method to screen for that issue.
For each condition, we've developed several documents. The first is a basic overview of the condition that can easily be reviewed in under a minute. This is intended for the consulting physician who just wants a global overview of the condition. The second is a more in-depth discussion, divided into different sections based on the stage of life. It includes suggested evaluations and referrals at birth or at diagnosis as well as routine screenings as the individual gets older. Each part includes the main concerns that may present during that time. For many of these features, there is a link to more specific information. Lastly, there is a third document that describes how to translate a microarray report into a personalized syndrome description. In other words, it is a step-by-step guide to figuring out which genes a person is missing and what, if any, effect they may have may have when deleted.
We at the Chromosome 18 Clinical Research Center hope that families find this information to be a useful tool that will help their physicians be better informed. We invite everyone to review these documents and to share them with their health care team.
Chromsome 18 Clinical Management Guides -Click
Here
Courtney Sebold, MS, CGC
Genetic Counselor
Chromosome 18 Clinical Research Center
UT Health at San Antonio
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