Chromosome 9 P Minus Syndrome

Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus 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.

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.