Condition: Chromosome 9P Deletion Syndrome · 9p Minus Syndrome · Alfi Syndrome · Sponsor: Washington University School of Medicine
Patients with deletion of chromosome 9 P are rare (\~200 in the medical literature) and have a diverse set of phenotypic characteristics. We propose using state of the art genome sequencing methods to define the location and size of the deleted portion of chromosome 9 P as well as the genetic background in affected patients (whole genome sequencing) and correlate the genes in the deleted portion of chromosome 9 P with specific phenotypic characteristics of each patient. Enrolled participants will be asked to complete a detailed questionnaire, complete a medical release form, and provide a biospecimen sample.
This description comes directly from the study's public registry record.
F. S. Cole, M.D. · 314-454-6183 · fcole@wustl.edu
Sophia Couteranis · 3142861547 · 9pminus@wustl.edu
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| Washington University School of Medicine | St Louis, Missouri, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT04586400