22q11.2 Deletion Syndrome: A Comprehensive Review for Pediatricians From Diagnosis to Adult Care Transition

Abstract

Affecting ~1 in 4000 to 6000 live births, 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome. It results from a 1.5 to 3 Mb heterozygous deletion at chromosome 22q11.2 and is associated with a broad spectrum of clinical manifestations, including cardiac defects, palatal abnormalities, thymic hypoplasia, developmental delays, and neuropsychiatric symptoms. Multiple techniques such as chromosomal microarray and sequencing techniques such as fluorescence in situ hybridization help in the diagnosis of 22q11.2DS. A multidisciplinary approach to management is required, involving cardiology, immunology, endocrinology, speech therapy, psychiatry, and genetics. Surveillance should include monitoring for immunodeficiency, hypocalcemia, thyroid dysfunction, hematologic complications, and psychiatric illness. Genetic counselling and prenatal testing are crucial components in guiding families and informing reproductive decision-making. Additionally, structured transition of care programs should be employed to ensure continued care into adulthood. Although 22q11.2DS has gained significant recognition in the past decades, educational gaps still persist for pediatricians, especially regarding when to suspect, genetic testing, and coordination of care. This review aims to provide insights into the epidemiology, pathogenesis, system-based clinical features, diagnosis, management, and surveillance of 22q11.2DS, highlighting practical strategies that can be employed by pediatricians to improve early detection and optimize long-term outcomes.