P185: Phenotypic delineation of 22q11.2 deletion syndrome in a unique Southwestern population: The Phoenix Children's perspective
Abstract
22q11.2 deletion syndrome is the most common chromosome microdeletion disorder, associated with variable congenital anomalies, including heart defects, palatal problems, immunodeficiency, endocrine, and neurodevelopmental disorders. Despite a consistent microdeletion size of 2.8Mb in most cases, symptoms vary widely, and feature frequencies among different ancestral groups have not been fully delineated. The population of Arizona is 31% Hispanic and 4.3% Native American, compared to the general population, which is 18.5% Hispanic and 0.7% Native American.
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Immunodeficiency and Autoimmune Disorders
Congenital Ear and Nasal Anomalies
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103679–103679
- Publication date
- 1 January 2026
- Language
- EN