{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:00:34Z","timestamp":1790816434011,"version":"4.1.0"},"reference-count":137,"publisher":"American Academy of Pediatrics (AAP)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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.<\/jats:p>","DOI":"10.1542\/pir.2025-006952","type":"journal-article","created":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:03:11Z","timestamp":1790812991000},"page":"581-591","source":"Crossref","is-referenced-by-count":0,"title":["22q11.2 Deletion Syndrome: A Comprehensive Review for Pediatricians From Diagnosis to Adult Care Transition"],"prefix":"10.1542","volume":"47","author":[{"given":"Suzain","family":"Ali","sequence":"first","affiliation":[{"name":"1Rollins School of Public Health, Emory University, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranav","family":"Gupta","sequence":"additional","affiliation":[{"name":"2Children\u2019s Healthcare of Atlanta, Atlanta, Georgia"},{"name":"3Emory University School of Medicine, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2026,10,1]]},"reference":[{"key":"2026093020030943500_r1","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/S0022-3476(65)81796-6","article-title":"Discussions on a new concept of the cellular base of immunology","volume":"67","author":"Cooper","year":"1965","journal-title":"J Pediatr."},{"issue":"10","key":"2026093020030943500_r2","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","article-title":"Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study","volume":"34","author":"Ryan","year":"1997","journal-title":"J Med Genet."},{"issue":"10","key":"2026093020030943500_r3","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.30.10.822","article-title":"Conotruncal anomaly 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palate","volume":"129","author":"Bezuhly","year":"2012","journal-title":"Plast Reconstr Surg."},{"issue":"9","key":"2026093020030943500_r37","doi-asserted-by":"crossref","first-page":"977","DOI":"10.3390\/genes11090977","article-title":"Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels","volume":"11","author":"Karbarz","year":"2020","journal-title":"Genes (Basel)."},{"issue":"2","key":"2026093020030943500_r38","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s10875-022-01418-y","article-title":"Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development","volume":"43","author":"Mustillo","year":"2023","journal-title":"J Clin Immunol."},{"issue":"5","key":"2026093020030943500_r39","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1007\/s10875-017-0403-9","article-title":"Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe 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Cardiol."},{"issue":"2","key":"2026093020030943500_r49","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.ijcard.2005.12.029","article-title":"Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study","volume":"114","author":"Park","year":"2007","journal-title":"Int J Cardiol."},{"issue":"11","key":"2026093020030943500_r50","doi-asserted-by":"crossref","first-page":"e005041","DOI":"10.1136\/bmjopen-2014-005041","article-title":"Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study","volume":"4","author":"Repetto","year":"2014","journal-title":"BMJ Open."},{"issue":"11","key":"2026093020030943500_r51","doi-asserted-by":"crossref","first-page":"2724","DOI":"10.1002\/ajmg.a.36720","article-title":"Fetal phenotype associated with the 22q11 deletion","volume":"164A","author":"No\u00ebl","year":"2014","journal-title":"Am J Med Genet A."},{"issue":"5","key":"2026093020030943500_r52","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/pd.4321","article-title":"A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes","volume":"34","author":"Besseau-Ayasse","year":"2014","journal-title":"Prenat Diagn."},{"issue":"5","key":"2026093020030943500_r53","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1067\/mpd.2003.156","article-title":"Parathyroid function and growth in 22q11.2 deletion syndrome","volume":"142","author":"Brauner","year":"2003","journal-title":"J Pediatr."},{"issue":"1","key":"2026093020030943500_r54","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1530\/eje.1.02180","article-title":"The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11","volume":"155","author":"Hi\u00e9ronimus","year":"2006","journal-title":"Eur J 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