MedTrace Logo

Genetic Modifiers for 22q11.2 Syndrome

NCT00916955 · Status: COMPLETED · Type: OBSERVATIONAL

Last updated 2021-10-20

No results posted yet for this study

Summary

The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In other words, the purpose remains genotype-to-phenotype matching. Current methods includes the use of whole genome chips and microarray analysis. Blood samples are collected for DNA from every patient who consents from the VCFS Center at Upstate Medical University. They are examined for phenotypic features consistent with our typical clinical evaluation. The information from these examinations will be entered anonymously into a database. Genomic information is then matched to clinical phenotype with appropriate statistical method applied.

Conditions

  • 22q11.2 Deletion Syndrome

Interventions

OTHER

Observation

Observe development of syndrome over time

Sponsors & Collaborators

  • Albert Einstein College of Medicine

    collaborator OTHER

  • State University of New York - Upstate Medical University

    lead OTHER

Principal Investigators

  • Robert J Shprintzen, PhD · Upstate Medical University

  • Bernice Morrow, PhD · Albert Einstein College of Medicine

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2008-03-31
Primary Completion
2015-02-28
Completion
2015-02-28

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00916955 on ClinicalTrials.gov