What is Chromosome partial trisomy 22q11q13?
• Chromosome partial trisomy 22q11q13: A rare chromosomal disorder where a portion of chromosome 22 at the location q11-q13 is triplicated instead of resulting in various anomalies. Chromosome partial trisomy 22q11q13 is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome partial trisomy 22q11q13, or a subtype of Chromosome partial trisomy 22q11q13, affects less than 200,000 people in the US population.