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.
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.
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