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Genetic Modifiers for 22q11.2 Syndrome

NCT ID: NCT00916955

Last Updated: 2021-10-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Study Classification

OBSERVATIONAL

Study Start Date

2008-03-31

Study Completion Date

2015-02-28

Brief Summary

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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

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Conditions

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22q11.2 Deletion Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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

Observation

Intervention Type OTHER

Observe development of syndrome over time

Interventions

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Observation

Observe development of syndrome over time

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria

* none
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Albert Einstein College of Medicine

OTHER

Sponsor Role collaborator

State University of New York - Upstate Medical University

OTHER

Sponsor Role lead

Responsible Party

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Albert Einstein College of Medicine

Principal Investigators

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Robert J Shprintzen, PhD

Role: PRINCIPAL_INVESTIGATOR

Upstate Medical University

Bernice Morrow, PhD

Role: PRINCIPAL_INVESTIGATOR

Albert Einstein College of Medicine

Locations

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VCFS International Center

Syracuse, New York, United States

Site Status

Countries

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United States

References

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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. doi: 10.1097/01.mop.0000184465.73833.0b.

Reference Type RESULT
PMID: 16282778 (View on PubMed)

Related Links

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http://www.vcfscenter.org

Web site of the location for the investigation

Other Identifiers

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3669FF

Identifier Type: -

Identifier Source: org_study_id