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.
Chromosome 9P Deletion Syndrome, 9p Minus Syndrome, Alfi Syndrome, 9P Monosomy, 9P Partial Monosomy Syndrome
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.
Chromosome 9 P Minus Syndrome
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Washington University School of Medicine, Saint Louis, Missouri, United States, 63110
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ALL
Yes
Washington University School of Medicine,
F. S Cole, M.D., PRINCIPAL_INVESTIGATOR, Washington University School of Medicine
2026-06