Genetic Modifiers for 22q11.2 Syndrome

Completed

• Conditions: 22q11.2 Deletion Syndrome

• Registration Number: NCT00916955
• Lead Sponsor: State University of New York - Upstate Medical University

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2008-03
• Study First Submitted: 2008-03-24
• Study First Submitted QC: 2009-06-08
• Study First Posted: 2009-06-10
• Status Verified: 2010-08
• Primary Completion: 2015-02
• Study Completion: 2015-02
• Last Update Submitted: 2021-10-19
• Last Update Posted: 2021-10-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

• FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria

• none

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
gene signal strength	4 years

Secondary Outcome Measures

Name	Time	Method
physical phenotype	4 years

Trial Locations

Locations (1)

VCFS International Center; 🇺🇸 Syracuse, New York, United States