Genetic Modifiers for 22q11.2 Syndrome
| Status: | Completed |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | March 2008 |
| End Date: | February 2015 |
| Contact: | Anne Marie Higgins, RN, FNP, MA |
| Email: | HigginsA@upstate.edu |
| Phone: | 315-464-6595 |
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.
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.
Inclusion Criteria:
- FISH confirmed diagnosis of 22q11.2 deletion syndrome
Exclusion Criteria:
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