{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T08:39:12Z","timestamp":1770971952919,"version":"3.50.1"},"reference-count":26,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T00:00:00Z","timestamp":1738627200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Education, Science and Technological Development of the Republic of Serbia","award":["451-03-65\/2024-03\/200111"],"award-info":[{"award-number":["451-03-65\/2024-03\/200111"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Monosomy 18p is a chromosomal disorder resulting from the deletion of the short arm of chromosome 18. While a lot of cases result from the partial deletion of 18p, only a few reported cases are caused by the deletion of the whole short arm of chromosome 18 due to unbalanced translocations occurring between chromosomes 13 and 18 (13;18). 18p- monosomy presents with a variety of clinical manifestations, including facial dysmorphism, intellectual disability, and short stature, among others. Case presentation: Here, we report a case of a one-year-old girl with 18p- monosomy resulting from an unbalanced translocation between chromosomes 13 and 18 (45, XX, t(13;18) (q12:p11.2)). Our patient had facial dysmorphism and stunted growth. Additionally, she had hypotonia and required thyroxine supplementation from a young age. To our knowledge, this is the first case of astigmatism in a patient with this deletion and an unbalanced translocation between chromosomes 13 and 18. Conclusions: The present case demonstrates the phenotypic spectrum of a rare variant of monosomy 18 caused by an unbalanced whole-arm translocation between chromosomes 13 and 18. Our study emphasizes the significance of cytogenetic testing to diagnose this disease, which has been described only five times in the literature.<\/jats:p>","DOI":"10.3390\/diagnostics15030358","type":"journal-article","created":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T05:13:43Z","timestamp":1738646023000},"page":"358","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3179-6043","authenticated-orcid":false,"given":"Bojana","family":"Markovi\u0107","sequence":"first","affiliation":[{"name":"Pediatric Clinic, University Clinical Centre Kragujevac, Zmaj Jovina 30, 34000 Kragujevac, Serbia"},{"name":"Department of Pediatrics, Faculty of Medical Science, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8151-9004","authenticated-orcid":false,"given":"Marina","family":"Gazdi\u0107 Jankovi\u0107","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Medical Sciences, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoran","family":"Igrutinovi\u0107","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, University Clinical Centre Kragujevac, Zmaj Jovina 30, 34000 Kragujevac, Serbia"},{"name":"Department of Pediatrics, Faculty of Medical Science, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ra\u0161a","family":"Medovi\u0107","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, University Clinical Centre Kragujevac, Zmaj Jovina 30, 34000 Kragujevac, Serbia"},{"name":"Department of Pediatrics, Faculty of Medical Science, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nevena","family":"Stojadinovi\u0107","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, University Clinical Centre Kragujevac, Zmaj Jovina 30, 34000 Kragujevac, Serbia"},{"name":"Department of Communication Skills, Ethics and Psychology, Faculty of Medical Science, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biljana","family":"Ljuji\u0107","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Medical Sciences, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e25777","DOI":"10.1097\/MD.0000000000025777","article-title":"The genotype and phenotype of chromosome 18p deletion syndrome","volume":"100","author":"Jin","year":"2021","journal-title":"Medicine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e15027","DOI":"10.1097\/MD.0000000000015027","article-title":"Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis","volume":"98","author":"Qi","year":"2019","journal-title":"Medicine"},{"key":"ref_3","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. Part C Semin. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"632","DOI":"10.4103\/ccd.ccd_129_17","article-title":"18p deletion syndrome: Case report with clinical consideration and management","volume":"8","author":"Jain","year":"2017","journal-title":"Contemp. Clin. Dent."},{"key":"ref_5","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_6","doi-asserted-by":"crossref","unstructured":"van Wijngaarden, V., de Wilde, H., van der Molen, D.M., Petter, J., Stegeman, I., Gerrits, E., Smit, A.L., and Boogaard, M.-J.v.D. (2024). Genetic outcomes in children with developmental language disorder: A systematic review. Front. Pediatr., 12.","DOI":"10.3389\/fped.2024.1315229"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.a.36880","article-title":"Whole arm deletions of 18p: Medical and developmental effects","volume":"167","author":"Sebold","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_8","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_9","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.gene.2013.06.081","article-title":"Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes","volume":"527","author":"Chen","year":"2013","journal-title":"Gene"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1080\/01443615.2017.1306836","article-title":"Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: Case report","volume":"37","author":"Yin","year":"2017","journal-title":"J. Obstet. Gynaecol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"236","DOI":"10.14802\/jmd.23222","article-title":"A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient with Dystonia-Parkinsonism","volume":"17","author":"Cavallieri","year":"2024","journal-title":"J. Mov. Disord."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/mdc3.12707","article-title":"Spectrum of Movement Disorders in 18p Deletion Syndrome","volume":"6","author":"Crosiers","year":"2018","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/mds.20846","article-title":"Unbalanced whole arm translocation resulting in loss of 18p in dystonia","volume":"21","author":"Nasir","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/1096-8628(20000918)94:3<198::AID-AJMG4>3.0.CO;2-9","article-title":"Heterotaxy with left atrial isomerism in a patient with deletion 18p","volume":"94","author":"Digilio","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1055\/s-0042-1743261","article-title":"Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy","volume":"09","author":"Kocaaga","year":"2022","journal-title":"Glob. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"81","DOI":"10.2478\/bjmg-2013-0023","article-title":"A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA","volume":"16","author":"Demirpence","year":"2013","journal-title":"Balk. J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.12688\/f1000research.11539.1","article-title":"Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18","volume":"6","author":"Chau","year":"2017","journal-title":"F1000Research"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Herlin, M.K., Jensen, J.M.B., Andreasen, L., Petersen, M.S., L\u00f8nskov, J., Thorup, M.B., Birkeb\u00e6k, N., Mogensen, T.H., Herlin, T., and Deleuran, B. (2024). Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM. Front. Genet., 15.","DOI":"10.3389\/fgene.2024.1437566"},{"key":"ref_19","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\u2013phenotype correlation","volume":"140A","author":"Wester","year":"2006","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_20","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_21","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_22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15406\/jpnc.2016.04.00148","article-title":"A Rare Association of Monosomy 18 with Translocation 13p 11\/18 with Cholelithiasis","volume":"4","author":"Sinha","year":"2016","journal-title":"J. Pediatr. Neonatal Care"},{"key":"ref_23","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_24","doi-asserted-by":"crossref","unstructured":"Choi, J.Y., Moon, J.U., Yoon, D.H., Yim, J., Kim, M., and Jung, M.H. (2022). 18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review. Children, 9.","DOI":"10.3390\/children9070987"},{"key":"ref_25","first-page":"755","article-title":"Molecular Cytogenetics: Bridging the Gap Between G-banding and Next-generation Sequencing","volume":"15","author":"Caleb","year":"2024","journal-title":"J. Cytol. Hisol."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Jaksik, R., Iwanaszko, M., Rzeszowska-Wolny, J., and Kimmel, M. (2015). Microarray experiments and factors which affect their reliability. Biol. Direct, 10.","DOI":"10.1186\/s13062-015-0077-2"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/3\/358\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T16:26:26Z","timestamp":1760027186000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/3\/358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,4]]},"references-count":26,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,2]]}},"alternative-id":["diagnostics15030358"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15030358","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,4]]}}}