Pediatrics. 2025 Jul 21:e2025072717. doi: 10.1542/peds.2025-072717. Online ahead of print.
ABSTRACT
22q11.2 deletion syndrome is the most frequent chromosomal microdeletion syndrome, with an estimated frequency of about 1/4000 in children younger than 1 year. Associated features in neonates and infants are conotruncal heart defects, interrupted aortic arch type B, cleft palate, hypocalcemia (which can present as seizures), feeding problems, developmental delay, and immune system abnormalities. Older children, adolescents, and adults may have neurocognitive impairments and/or speech disorders. Psychiatric diagnoses are more common than in the general population. Newborn infants may have a positive newborn screening for severe combined immunodeficiency (SCID). Genetic diagnosis is confirmed by chromosome microarray. This document is intended to provide guidance for health care providers to help identify individual patients at high risk of developing serious sequelae and to enable intervention before complications develop.
PMID:40685150 | DOI:10.1542/peds.2025-072717
