Genetic Modifiers for 22q11.2 Syndrome

Conditions:		22q11.2 Deletion Syndrome
Purpose:		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.
Study Summary:
Criteria:		Inclusion Criteria: - FISH confirmed diagnosis of 22q11.2 deletion syndrome Exclusion Criteria: - none
NCT ID:		NCT00916955
Primary Contact:		Principal Investigator Robert J Shprintzen, PhD Upstate Medical University Anne Marie Higgins, RN, FNP, MA Phone: 315-464-6595 Email: HigginsA@upstate.edu
Backup Contact:		Email: shprintr@upstate.edu Robert J Shprintzen, PhD Phone: 315-464-6590
Location Contact:		Syracuse, New York 13210 United States Anne Marie Higgins, RN, FNP, MA Phone: 315-464-6595 Email: HigginsA@upstate.edu Site Status: Recruiting

Data Source:		ClinicalTrials.gov
Date Processed:		May 18, 2013
Modifications to this listing:		Only selected fields are shown, please use the link below to view all information about this clinical trial.
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