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Chromosome 9 P Minus Syndrome

Chromosome 9 P Minus Syndrome

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Phase N/A
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Overview

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

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 details
    Chromosome 9P Deletion Syndrome
    9p Minus Syndrome
    Alfi Syndrome
    9P Monosomy
    9P Partial Monosomy Syndrome

NCT04586400

Washington University School of Medicine

26 January 2024

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