<p>The study is designed to identify genetic modifiers of cardiovascular defects in subjects with 22q11.2 deletion syndrome (22q11.2DS), also known as DiGeorge syndrome or velo-cardio-facial syndrome. Affymetrix 6.0 arrays were processed on 1,480 subjects with known cardiovascular anomalies or with normal structures, all with 22q11.2DS. One sample is a duplicate so it was removed. There are 1,472 samples total of unrelated, de-identified, probands. Over 90% have the same sized 3 million base pair deletion flanked by low copy repeats (LCR22) A and D, while approximately 6% have nested A to B deletions. The rest have other nested deletions, that include a deletion in the vicinity of TBX1 (between LCR22 A and B). A subset of the data was used to identify copy number variations serving as modifiers. Some data were previously published by Dr. Emanuel's team at Children's Hospital of Philadelphia in PA, USA (<a href="https://www.ncbi.nlm.nih.gov/pubmed/?term=26742502">PMID:26742502</a>; <a href="https://www.ncbi.nlm.nih.gov/pubmed/?term=4896312">PMID:4896312</a>; <a href="https://www.ncbi.nlm.nih.gov/pubmed/?term=25892112">PMID:25892112</a>; <a href="https://www.ncbi.nlm.nih.gov/pubmed/?term=4570279">PMID:4570279</a>). The de-identified DNA data from unrelated subjects come from multiple research sites in the US and Europe as part of the International 22q11.2 Consortium and the International 22q11.2 Brain and Behavior Consortium.</p>

Developmental Mechanisms of Human Congenital Heart Disease

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Radiobacteriolysis: a New Technique Using Chromium-51 for Assaying Anti- Vibrio cholerae Antibodies

Effect of Escherichia coli endotoxin on locomotor activity of mice.