Article
Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.
Genes - 24 Jan 2026
Pimenta Larissa Salustiano Evangelista, Mello Claudia Berlim de, Polanczyk Guilherme V, Kulikowski Leslie Domenici, Melaragno Maria Isabel, Kim Chong Ae
Abstract excerpt
22q11.2 deletion syndrome (22q11.2DS) is the most common recurrent microdeletion in humans and a prototypical high-risk neurogenetic copy number variant (CNV) associated with a broad spectrum of neurodevelopmental and psychiatric disorders, including intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), anxiety, and psychotic symptoms. This hemizygous...
Topics
- Humans
- DNA Copy Number Variations
- Adolescent
- DiGeorge Syndrome
- Child
- Child, Preschool
- Female
- Phenotype
- Male
- Infant
- Intellectual Disability
- Adaptation, Psychological