Enrollment & Research

Everyone with a chromosome 18 abnormality is eligible to participate in our research. All of our studies begin with Primary Enrollment, regardless of which chromosome 18 abnormality a family has or which particular projects they may want to participate in.

Primary enrollment steps:

  1. Fill out and submit the on-line enrollment form
  2. The Project Manager (Annice Hill) will then contact you to answer questions and provide the specifics of enrollment
  3. Complete the informed consent process
  4. Send medical records including the diagnostic laboratory report that found a chromosome 18 abnormality
  5. Send blood from the affected person and their biological parents (when available) in the blood kit proved by the study for genetic analysis

For more information about enrollment, you can read the Enrollment FAQ’s.

Current Studies:
Families with a member with a chromosome 18 deletion or duplication who are enrolled participants in the Chromosome 18 Clinical Research Center may be offered the opportunity to participate in specific studies. These studies may include:

  • Collecting existing medical records
  • On-line or mail surveys of developmental progress, medical history or issues
  • Telephone interviews
  • Comprehensive Clinical Evaluation at the Center in San Antonio
  • Clinical follow-up studies at the Center in San Antonio

The particular studies change and evolve over time depending on new knowledge, ideas, and funding availability.

A current area of emphasis is understanding the effects of deletions or duplications of chromosome 18 that were too small to be identified before the use of chromosome microarray analysis. To learn more about this particular study, click here.