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Purpose

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.

Conditions

Eligibility

Eligible Ages
All ages
Eligible Sex
All
Accepts 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 exclusion criteria for either affected individuals or their parents or siblings.

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Recruiting Locations

Washington University in St. Louis and nearby locations

Washington University School of Medicine
St Louis 4407066, Missouri 4398678 63110
Contact:
Sophia Couteranis
314-286-1547
csophia@wustl.edu

More Details

NCT ID
NCT04586400
Status
Recruiting
Sponsor
Washington University School of Medicine

Study Contact

F. S. Cole, M.D.
314-454-6183
fcole@wustl.edu

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.