{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T04:37:20Z","timestamp":1762058240473,"version":"build-2065373602"},"reference-count":16,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>18p deletion (18p-) syndrome is a rare chromosome abnormality that has a wide range of phenotypes, with short stature, intellectual disability, and facial dysmorphism being the main clinical features. Here, we report the first case in Korea of a 16-year-old male adolescent with 18p- syndrome resulting from de novo unbalanced whole-arm translocation between chromosomes 13 and 18 (45, XY, der(13;18)(q10:q10)). Three rare clinical findings were discovered that had not been reported in the previous literature; morbid obesity without other hormonal disturbances, rib cage deformity leading to the direct compression of the liver, and lumbar spondylolisthesis at the L5-S1 level. This case expands the phenotypic spectrum of 18p- syndrome and highlights the importance of considering chromosomal analysis, since this syndrome can be easily overlooked in a clinical setting, especially without distinctive symptoms of other organs, due to its nonspecific but typical features of short stature and mild intellectual disability with a mildly dysmorphic face. Moreover, since not all cases of 18p- syndrome with unbalanced translocation (13;18) show the same phenotype, multidisciplinary examinations and follow-up seem to be important to monitor evolving and developing clinical manifestations and to predict prognosis in advance associated with the specific genes of 18p breakpoint regions.<\/jats:p>","DOI":"10.3390\/children9070987","type":"journal-article","created":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T11:12:35Z","timestamp":1656760355000},"page":"987","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review"],"prefix":"10.3390","volume":"9","author":[{"given":"Ji Young","family":"Choi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Yeouido St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 07345, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9942-4609","authenticated-orcid":false,"given":"Ja Un","family":"Moon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yeouido St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 07345, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da Hye","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yeouido St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 07345, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9745-0731","authenticated-orcid":false,"given":"Jisook","family":"Yim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8632-0168","authenticated-orcid":false,"given":"Myungshin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5188-7041","authenticated-orcid":false,"given":"Min Ho","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yeouido St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 07345, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1750-1172-3-4","article-title":"Monosomy 18p","volume":"3","author":"Turleau","year":"2008","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"60","DOI":"10.6065\/apem.2019.24.1.60","article-title":"A case of de novo 18p deletion syndrome with panhypopituitarism","volume":"24","author":"Yang","year":"2019","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1034\/j.1399-0004.2001.590410.x","article-title":"Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p","volume":"59","author":"McGhee","year":"2001","journal-title":"Clin. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<463::AID-AJMG17>3.0.CO;2-E","article-title":"Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p","volume":"71","author":"Wang","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1136\/jmg.16.5.399","article-title":"18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male","volume":"16","author":"Moedjono","year":"1979","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.ejmg.2005.01.024","article-title":"Follow-up of adult males with chromosome 18p deletion","volume":"48","author":"Thiry","year":"2005","journal-title":"Eur. J. Med. Genet."},{"key":"ref_7","first-page":"00148","article-title":"A Rare Association of Monosomy 18 with Translocation 13p 11\/18 with Cholelithiasis","volume":"4","author":"Nema","year":"2016","journal-title":"J. Pediatr. Neonatal. Care"},{"key":"ref_8","first-page":"627","article-title":"A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18","volume":"22","author":"Safavi","year":"2019","journal-title":"Arch. Iran Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ajmg.c.31445","article-title":"A review of 18p deletions","volume":"169","author":"Sebold","year":"2015","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/sj.ejhg.5201718","article-title":"Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation","volume":"15","author":"Brenk","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e25777","DOI":"10.1097\/MD.0000000000025777","article-title":"The genotype and phenotype of chromosome 18p deletion syndrome: Case series","volume":"100","author":"Jin","year":"2021","journal-title":"Medicine"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/ajmg.a.31260","article-title":"Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation","volume":"140","author":"Wester","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"117600","DOI":"10.1016\/j.jns.2021.117600","article-title":"Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia","volume":"428","author":"Chiang","year":"2021","journal-title":"J. Neurol. Sci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/ajmg.1320370130","article-title":"Neurologic manifestations in 18q- syndrome","volume":"37","author":"Miller","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/jir.12568","article-title":"Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome","volume":"63","author":"Mello","year":"2019","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s40673-015-0038-7","article-title":"Spinocerebellar ataxia 28: A novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing","volume":"2","author":"Zuhlke","year":"2015","journal-title":"Cerebellum Ataxias"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/7\/987\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:41:35Z","timestamp":1760139695000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/7\/987"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,1]]},"references-count":16,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7]]}},"alternative-id":["children9070987"],"URL":"https:\/\/doi.org\/10.3390\/children9070987","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2022,7,1]]}}}