{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,15]],"date-time":"2023-12-15T00:26:26Z","timestamp":1702599986313},"reference-count":30,"publisher":"Springer Publishing Company","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2023,5,1]]},"abstract":"<jats:p>To date, 22q11.2 deletion syndrome (DS) is regarded as the most commonly diagnosed DS in humans. The location of the deletion on chromosome 22 affects the phenotypic presentation, which ranges from subtle to severe. Common manifestations include congenital heart defects, calcium deficiency, clefts and other midline defects, immunodeficiencies, and neurocognitive delay. This wide range of clinical manifestations can complicate diagnostic reasoning as many align with other disease processes commonly observed in preterm neonates. This article presents the case of a preterm neonate born at 25-weeks\u2019 gestation with 22q11.2 DS. The clinical presentation of this neonate included a right aortic arch, ventricular septal defect, hypocalcemia, borderline severe combined immunodeficiency, and abnormal thyroid function. The infant\u2019s hospital course is followed to highlight the challenges clinicians face when suspicious of a genetic disorder in a preterm neonate.<\/jats:p>","DOI":"10.1891\/nn-2022-0023","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T18:55:16Z","timestamp":1685559316000},"page":"137-144","source":"Crossref","is-referenced-by-count":0,"title":["The Subtlety of 22q11.2 Deletion Syndrome in a Preterm Neonate"],"prefix":"10.1891","volume":"42","author":[{"given":"Laura","family":"Cline","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Aranda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Jnah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"793","published-online":{"date-parts":[[2023,5,31]]},"reference":[{"key":"2023061523150719000_42.3.137.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"issue":"4","key":"2023061523150719000_42.3.137.2","doi-asserted-by":"crossref","first-page":"412","DOI":"10.5114\/ceji.2017.72818","article-title":"Clinical variability of chromosome 22q11.2 deletion syndrome","volume":"42","year":"2017","journal-title":"Cent Eur J Immunol"},{"key":"2023061523150719000_42.3.137.3","doi-asserted-by":"crossref","unstructured":"Li, S , Han, X , Ye, M , et al. Prenatal diagnosis of microdeletions or microduplications in the proximal, central, and distal regions of chromosome 22q11.2: ultrasound findings and pregnancy outcome. Front Genet . 2019;10. https:\/\/doi.org\/10.3389\/fgene.2019.00813","DOI":"10.3389\/fgene.2019.00813"},{"key":"2023061523150719000_42.3.137.4","doi-asserted-by":"crossref","unstructured":"Maldjian, P , Sanders, AE . 22q11 deletion syndrome with vascular anomalies. J Clin Imaging Sci . 2018;8. https:\/\/doi.org\/10.4103\/jcis.JCIS_66_17","DOI":"10.4103\/jcis.JCIS_66_17"},{"key":"2023061523150719000_42.3.137.5","doi-asserted-by":"crossref","unstructured":"Rozas, MF , Benavides, F , Le\u00f3n, L , Repetto, GM . Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis. 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