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Genetic Modifiers for 22q11.2 Syndrome (VCFS)

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified August 2010 by State University of New York - Upstate Medical University.
Recruitment status was:  Recruiting
Albert Einstein College of Medicine, Inc.
Information provided by:
State University of New York - Upstate Medical University Identifier:
First received: March 24, 2008
Last updated: January 5, 2015
Last verified: August 2010
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.

Condition Intervention
22q11.2 Deletion Syndrome
Other: Observation

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetic Modifiers for 22q11.2 Syndrome

Resource links provided by NLM:

Further study details as provided by State University of New York - Upstate Medical University:

Primary Outcome Measures:
  • gene signal strength [ Time Frame: 4 years ]

Secondary Outcome Measures:
  • physical phenotype [ Time Frame: 4 years ]

Biospecimen Retention:   Samples With DNA
peripheral blood

Estimated Enrollment: 500
Study Start Date: March 2008
Estimated Study Completion Date: February 2015
Estimated Primary Completion Date: February 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Individuals with 22q11.2 deletions
Individuals confirmed with the diagnosis of velo-cardio-facial syndrome by positive FISH or CGH microarray confirming the diagnosis and deletion of 22q11.2
Other: Observation
Observe development of syndrome over time


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All individuals with velo-cardio-facial syndrome confirmed by FISH

Inclusion Criteria:

  • FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria:

  Contacts and Locations
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Please refer to this study by its identifier: NCT00916955

Contact: Anne Marie Higgins, RN, FNP, MA 315-464-6595
Contact: Robert J Shprintzen, PhD 315-464-6590

United States, New York
VCFS International Center Recruiting
Syracuse, New York, United States, 13210
Contact: Anne Marie Higgins, RN, FNP, MA    315-464-6595   
Contact: Robert J Shprintzen, PhD    315-464-6590   
Sponsors and Collaborators
State University of New York - Upstate Medical University
Albert Einstein College of Medicine, Inc.
Principal Investigator: Robert J Shprintzen, PhD Upstate Medical University
Principal Investigator: Bernice Morrow, PhD Albert Einstein College of Medicine, Inc.
  More Information

Additional Information:
Responsible Party: Bernice Morrow, Ph.D., Albert Einstein College of Medicine Identifier: NCT00916955     History of Changes
Other Study ID Numbers: 3669FF
Study First Received: March 24, 2008
Last Updated: January 5, 2015

Keywords provided by State University of New York - Upstate Medical University:
22q11.2 deletion syndrome
velo-cardio-facial syndrome
congenital anomalies
mental illness
congenital heart disease

Additional relevant MeSH terms:
DiGeorge Syndrome
Pathologic Processes
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Parathyroid Diseases
Endocrine System Diseases processed this record on May 25, 2017