NCT04586400RecruitingAccepts Healthy Volunteers
Chromosome 9 P Minus Syndrome
Washington University School of Medicine
Start Date
6/27/2017
Completion Date
6/1/2026
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.
Eligibility Criteria
Age Range: No minimum to No maximum
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.
Conditions
Chromosome 9P Deletion Syndrome9p Minus SyndromeAlfi Syndrome9P Monosomy9P Partial Monosomy Syndrome
Locations
Washington University School of Medicine
St Louis, Missouri 63110
United States