Genetic Modifiers for 22q11.2 Syndrome


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 Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: February 2015


  • Other: Observation
    • Observe development of syndrome over time

Arms, Groups and Cohorts

  • 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

Clinical Trial Outcome Measures

Primary Measures

  • gene signal strength
    • Time Frame: 4 years

Secondary Measures

  • physical phenotype
    • Time Frame: 4 years

Participating in This Clinical Trial

Inclusion Criteria

  • FISH confirmed diagnosis of 22q11.2 deletion syndrome Exclusion Criteria:

  • none

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • State University of New York – Upstate Medical University
  • Collaborator
    • Albert Einstein College of Medicine
  • Provider of Information About this Clinical Study
    • Bernice Morrow, Ph.D., Albert Einstein College of Medicine
  • Overall Official(s)
    • Robert J Shprintzen, PhD, Principal Investigator, Upstate Medical University
    • Bernice Morrow, PhD, Principal Investigator, Albert Einstein College of Medicine
  • Overall Contact(s)
    • Anne Marie Higgins, RN, FNP, MA, 315-464-6595,

Citations Reporting on Results

Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Curr Opin Pediatr. 2005 Dec;17(6):725-30. Review.

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