Chromosome 9 P Minus Syndrome

Last updated: August 2, 2024
Sponsor: Washington University School of Medicine
Overall Status: Active - Recruiting

Phase

N/A

Condition

Williams Syndrome

Treatment

N/A

Clinical Study ID

NCT04586400
201706062
  • All Genders
  • Accepts Healthy Volunteers

Study 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

Inclusion

Inclusion Criteria:

  • Having 9P minus syndrome/ deletions on the 9th chromosome

  • Parents and siblings of affected individuals may also be included to determinecontribution of genetic background to phenotypic characteristics

Exclusion

Exclusion Criteria:

  • No exclusion criteria for either affected individuals or their parents or siblings.

Study Design

Total Participants: 200
Study Start date:
June 27, 2017
Estimated Completion Date:
June 30, 2026

Connect with a study center

  • Washington University School of Medicine

    Saint Louis, Missouri 63110
    United States

    Active - Recruiting

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