9p Minus Syndrome, 9P Monosomy, 9P Partial Monosomy Syndrome, Alfi Syndrome, Chromosome 9P Deletion Syndrome
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Dickson, Patricia I., M.D.
Milbrandt, Jeffrey, MD, PhD
Mitra, Rob, PhD
Turner, Tychele, PhD
Washington University School of Medicine
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Having 9P minus syndrome/ deletions on the 9th chromosome * Parents and siblings of affected individuals may also be included to determine contribution of genetic background to phenotypic characteristics
Exclusion criteria
* No
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genotypic and Phenotypic Correlation | As enrollment increases the team hopes to have preliminary results by 2022 | By use of demographic and genetic material we hope to gain a better understanding between the deletion on the short arm of the 9th chromosome and the features presented. |
Countries
United States
Contacts
Primary ContactF. S. Cole, M.D.
Backup ContactSophia Couteranis
Outcome results
None listed