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.

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Key information

Conditions

22q11.2 Deletion Syndrome 22q11 Deletion Syndrome Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities DiGeorge Syndrome Endocrine System Diseases Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Hemic and Lymphatic Diseases Hypoparathyroidism Lymphatic Abnormalities Lymphatic Diseases Mental Disorders Musculoskeletal Abnormalities Musculoskeletal Diseases Parathyroid Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

VCFS International Center

Syracuse, New York, 13210, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion criteria

none

Treatment and study plan

observation

Other

Observe development of syndrome over time

Primary outcomes

gene signal strength

Time frame: 4 years

Secondary outcomes

physical phenotype

Time frame: 4 years

Sponsors and collaborators

Lead sponsor

State University of New York - Upstate Medical University

Other

Collaborators

Albert Einstein College of Medicine

Registry information

Acronym: VCFS

Important dates

Study start: 2008
Primary completion: 2015
Study completion: 2015
First posted: Jun 10, 2009
Registry last updated: Oct 20, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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