Genetic Modifiers for 22q11.2 Syndrome
- Conditions
- 22q11.2 Deletion Syndrome
- Interventions
- Other: Observation
- 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
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- Not specified
- FISH confirmed diagnosis of 22q11.2 deletion syndrome
- none
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Individuals with 22q11.2 deletions Observation Individuals confirmed with the diagnosis of velo-cardio-facial syndrome by positive FISH or CGH microarray confirming the diagnosis and deletion of 22q11.2
- 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