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Dysmorphic features include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognathia, and dysplastic, low-set ears. To date, comparative genomic hybridization has identified this deletion in 38 patients. Consequently, additional patients with comprehensive clinical data are required to fully understand the spectrum of clinical manifestation associated with a deletion in the 2q31 cytoband.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We present the case of an 8-year-old female patient with clinical features of velocardiofacial syndrome, which include facial dysmorphism, congenital heart disease (persistent truncus arteriosus and ostium secundum-type atrial septal defect), and a seizure syndrome. Array comparative genomic hybridization revealed a non-continous deletion spanning cytobands 2q31.1-to 2q31.3, confirming a diagnosis of 2q31 microdeletion syndrome. The patient has undergone supportive therapies for swallowing and speech. Additionally, we provide a review of the literature on previous cases to give context.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In this report, we present the first documented case of a complex, discontinuous deletion spanning in the 2q31-2q32 regions. This case contributes to our understanding of the phenotypic and mutational spectrum observed in individuals with deletions in these cytobands. It underscores the significance of employing high-resolution techniques and comprenhensive analysis in diagnosing patients with complex phenotypes. Such approaches are crucial for differentiating this condition from more common microdeletion syndromes, such as the 22q11 deletion syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12887-024-04843-7","type":"journal-article","created":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T00:01:46Z","timestamp":1728432106000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report"],"prefix":"10.1186","volume":"24","author":[{"given":"Estephania","family":"Candelo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Giraldo-Ocampo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Nevado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,10,9]]},"reference":[{"key":"4843_CR1","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1002\/ajmg.a.31602","volume":"143A","author":"MA Mencarelli","year":"2007","unstructured":"Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, et al. 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The proband and her parents provided written informed consent to the reporting of this case (including the publication of images) and written informed consent is available to the journal on request. Information revealing the subject\u2019s identity was not included in the manuscript. The patient was identified by number and not by his real name.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethic approval and consent to participate"}},{"value":"All the images and patient material presented in this study have consented for publication and they are available to see upon request. Written informed consent was obtained from all subjects and\/or their legal guardian(s) for all the images and patient material presented in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"641"}}