{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T09:20:46Z","timestamp":1762420846123,"version":"build-2065373602"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T00:00:00Z","timestamp":1762387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed with 20p12.3 microdeletion syndrome. Genetic testing revealed a deletion spanning 3.5 Mb and containing 31 genes. The patient presented with a range of clinical manifestations, including growth faltering, short stature, controlled seizure disorder, dysmorphic features, and metabolic disturbances. Regarding dysmorphic features, she presented with malar hypoplasia, a high arched palate, microstomia, long philtrum, proptosis, and retrognathia. Metabolic disturbances were primarily manifested as episodes of hypoglycemia with a high anion gap metabolic acidosis. Despite receiving growth hormone therapy as management for short stature, the patient exhibited low levels of insulin-like growth factor 1 (IGF1). This case report adds to the limited body of knowledge regarding 20p12.3 microdeletion syndrome.<\/jats:p>","DOI":"10.3389\/fgene.2025.1669947","type":"journal-article","created":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T09:16:39Z","timestamp":1762420599000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review"],"prefix":"10.3389","volume":"16","author":[{"given":"Hanan","family":"Aljedani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousef","family":"Faden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manar","family":"Alghamdi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alshaimaa","family":"Alzahrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiman","family":"Shawli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reem","family":"Albakistani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,11,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1186\/s13104-015-1828-y","article-title":"20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature","author":"Amasdl","year":"2016","journal-title":"BMC Res. Notes"},{"key":"B2","doi-asserted-by":"publisher","first-page":"jkad258","DOI":"10.1093\/g3journal\/jkad258","article-title":"A nematode model to evaluate microdeletion phenotype expression. G3: genes, genomes","volume":"14","author":"Antkowiak","year":"2023","journal-title":"Genetics"},{"key":"B3","doi-asserted-by":"publisher","first-page":"Article 2580","DOI":"10.3390\/jcm12072580","article-title":"Glycaemic imbalances in seizures and epilepsy of paediatric age: a literature review","volume":"12","author":"Bartolini","year":"2023","journal-title":"J. Clin. Med."},{"key":"B4","doi-asserted-by":"publisher","first-page":"338","DOI":"10.4274\/jcrpe.galenos.2023.2023-4-4","article-title":"PROKR2 mutations in patients with short stature who have isolated growth hormone deficiency and multiple pituitary hormone deficiency","volume":"15","author":"Kardelen","year":"2023","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1136\/jmg.2008.061002","article-title":"20p12.3 microdeletion predisposes to Wolff\u2013Parkinson\u2013White syndrome with variable neurocognitive deficits","volume":"46","author":"Lalani","year":"2009","journal-title":"J. Med. Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1159\/000048806","article-title":"Molecular and cytogenetic characterisation of a small interstitial de novo 20p13\u2192p12.3 deletion in a patient with severe growth deficit","volume":"94","author":"Lepr\u00eatre","year":"2001","journal-title":"Cytogenet. Cell Genet."},{"key":"B7","volume-title":"20p12.3 microdeletion syndrome (concept id: C4304539)","year":"2024"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1124","DOI":"10.1111\/dmcn.12450","article-title":"Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum","volume":"56","author":"Ngoh","year":"2014","journal-title":"Dev. Med. Child Neurology"},{"key":"B9","doi-asserted-by":"publisher","first-page":"2261","DOI":"10.1002\/ajmg.a.38306","article-title":"A heterozygous microdeletion of 20p12.2\u20133 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency","volume":"173","author":"Parsons","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B10","doi-asserted-by":"publisher","first-page":"E1068","DOI":"10.1210\/jc.2011-3056","article-title":"PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption","volume":"97","author":"Reynaud","year":"2012","journal-title":"J. Clin. Endocrinol. Metabolism"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1646","DOI":"10.1002\/ajmg.a.34063","article-title":"Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate","volume":"155","author":"Sahoo","year":"2011","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B12","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/j.ajhg.2017.10.006","article-title":"Monoallelic BMP2 variants predicted to result in haploinsufficiency cause craniofacial, skeletal, and cardiac features overlapping those of 20p12 deletions","volume":"101","author":"Tan","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1186\/s12863-022-01093-3","article-title":"A comprehensive list of human microdeletion and microduplication syndromes","volume":"23","author":"Wetzel","year":"2022","journal-title":"BMC Genomic Data"},{"key":"B14","doi-asserted-by":"publisher","first-page":"2616","DOI":"10.1002\/ajmg.a.35594","article-title":"Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2","author":"Williams","year":"2012","journal-title":"Am. J. Med. Genet. Part A"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1669947\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T09:16:39Z","timestamp":1762420599000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1669947\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,6]]},"references-count":14,"alternative-id":["10.3389\/fgene.2025.1669947"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2025.1669947","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,6]]},"article-number":"1669947"}}