{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T17:56:02Z","timestamp":1793642162565,"version":"4.5.1"},"reference-count":160,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T00:00:00Z","timestamp":1683244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects\u2014most frequently conotruncal cardiac anomalies\u2014thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.<\/jats:p>","DOI":"10.3390\/ijms24098317","type":"journal-article","created":{"date-parts":[[2023,5,8]],"date-time":"2023-05-08T03:34:53Z","timestamp":1683516893000},"page":"8317","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach"],"prefix":"10.3390","volume":"24","author":[{"given":"Aleksandra","family":"Szczawi\u0144ska-Pop\u0142onyk","sequence":"first","affiliation":[{"name":"Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Schwartzmann","sequence":"additional","affiliation":[{"name":"Medical Student Scientific Society, English Division, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuzanna","family":"Chmara","sequence":"additional","affiliation":[{"name":"Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonina","family":"G\u0142ukowska","sequence":"additional","affiliation":[{"name":"Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Krysa","sequence":"additional","affiliation":[{"name":"Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maksymilian","family":"Majchrzycki","sequence":"additional","affiliation":[{"name":"Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurycy","family":"Olejnicki","sequence":"additional","affiliation":[{"name":"Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina","family":"Ostrowska","sequence":"additional","affiliation":[{"name":"Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Babik","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics with Pregnancy Pathology Unit, Franciszek Raszeja Municipal Hospital, 60-834 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Cort\u00e9s-Mart\u00edn, J., Pe\u00f1uela, N.L., S\u00e1nchez-Garc\u00eda, J.C., Montiel-Troya, M., D\u00edaz-Rodr\u00edguez, L., and Rodr\u00edguez-Blanque, R. 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