Genetic Modifiers for 22q11.2 Syndrome (VCFS)

State University of New York - Upstate Medical University

Status: Completed

Conditions: 22q11.2 Deletion Syndrome

Treatments: Other: Observation

Study type: Observational

Funder types: Other

Identifiers

NCT00916955

3669FF

Details and patient eligibility

About

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.

Enrollment: 500 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion criteria

• none

Trial design

500 participants in 1 patient group

Individuals with 22q11.2 deletions

Description:

Individuals confirmed with the diagnosis of velo-cardio-facial syndrome by positive FISH or CGH microarray confirming the diagnosis and deletion of 22q11.2

Treatment:

Other: Observation