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Clinical Trial 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.


Clinical Trial Description

n/a


Study Design

Observational Model: Cohort, Time Perspective: Prospective


Related Conditions & MeSH terms


NCT number NCT00916955
Study type Observational
Source State University of New York - Upstate Medical University
Contact Anne Marie Higgins, RN, FNP, MA
Phone 315-464-6595
Email HigginsA@upstate.edu
Status Recruiting
Phase N/A
Start date March 2008
Completion date February 2015

See also
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Recruiting NCT03284060 - Social Cognition Training and Cognitive Remediation N/A
Completed NCT02895906 - Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Phase 1
Active, not recruiting NCT00556530 - Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Completed NCT02460328 - Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome N/A