NCT00916955

Genetic Modifiers for 22q11.2 Syndrome

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: —
• Sponsor: State University of New York - Upstate Medical University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Type	Name	Description
OTHER	Observation	Observe development of syndrome over time

Timeline

• Start date: 2008-03-01
• Primary completion: 2015-02-01
• Completion: 2015-02-01
• First posted: 2009-06-10
• Last updated: 2021-10-20

Locations

1 site across 1 country: United States