{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T12:41:17Z","timestamp":1760445677347,"version":"build-2065373602"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100009880","name":"Regione Lazio","doi-asserted-by":"publisher","award":["G10269\/2024"],"award-info":[{"award-number":["G10269\/2024"]}],"id":[{"id":"10.13039\/501100009880","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"DOI":"10.1186\/s13039-025-00732-5","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T12:20:54Z","timestamp":1760444454000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement"],"prefix":"10.1186","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7217-7388","authenticated-orcid":false,"given":"Ludovico","family":"Graziani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Genovese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Luce","family":"Genovesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiana","family":"Di Rosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalba","family":"Di Noi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Loddo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Bengala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vito Luigi","family":"Colona","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viola","family":"Alesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Maria","family":"Nardone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,14]]},"reference":[{"key":"732_CR1","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/1750-1172-3-4","volume":"3","author":"C Turleau","year":"2008","unstructured":"Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008;3:4. https:\/\/doi.org\/10.1186\/1750-1172-3-4.","journal-title":"Orphanet J Rare Dis"},{"key":"732_CR2","doi-asserted-by":"publisher","first-page":"60","DOI":"10.6065\/apem.2019.24.1.60","volume":"24","author":"A Yang","year":"2019","unstructured":"Yang A, Kim J, Cho SY, Lee J-E, Kim H-J, Jin D-K. A case of de novo 18p deletion syndrome with panhypopituitarism. Ann Pediatr Endocrinol Metab. 2019;24:60\u20133. https:\/\/doi.org\/10.6065\/apem.2019.24.1.60.","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"732_CR3","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000039046","volume":"103","author":"T Xu","year":"2024","unstructured":"Xu T, Yue F, He J, Zhang H, Liu R. Prenatal detection of distal 18p deletion by chromosomal microarray analysis: three case reports and literature review. Medicine. 2024;103:e39046. https:\/\/doi.org\/10.1097\/MD.0000000000039046.","journal-title":"Medicine"},{"key":"732_CR4","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1111\/jir.12568","volume":"63","author":"CB Mello","year":"2019","unstructured":"Mello CB, Bueno OFA, Benedetto LM, Pimenta LSE, Takeno SS, Melaragno MI, et al. Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome. J Intellect Disabil Res. 2019;63:225\u201332. https:\/\/doi.org\/10.1111\/jir.12568.","journal-title":"J Intellect Disabil Res"},{"key":"732_CR5","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/ajmg.c.31445","volume":"169","author":"M Hasi-Zogaj","year":"2015","unstructured":"Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, et al. A review of 18p deletions. Am J Med Genet C Semin Med Genet. 2015;169:251\u201364. https:\/\/doi.org\/10.1002\/ajmg.c.31445.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"732_CR6","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1186\/s12920-023-01626-4","volume":"16","author":"Q Zhao","year":"2023","unstructured":"Zhao Q, Li Y, Shao Q, Zhang C, Kou S, Yang W, et al. Clinical and genetic evaluation of children with short stature of unknown origin. BMC Med Genomics. 2023;16:194. https:\/\/doi.org\/10.1186\/s12920-023-01626-4.","journal-title":"BMC Med Genomics"},{"key":"732_CR7","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/sj.ejhg.5201718","volume":"15","author":"CH Brenk","year":"2007","unstructured":"Brenk CH, Prott E-C, Trost D, Hoischen A, Walldorf C, Radlwimmer B, et al. Towards mapping phenotypical traits in 18p \u2013 syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007;15:35\u201344. https:\/\/doi.org\/10.1038\/sj.ejhg.5201718.","journal-title":"Eur J Hum Genet"},{"key":"732_CR8","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1755-8166-4-12","volume":"4","author":"S-J Park","year":"2011","unstructured":"Park S-J, Jung EH, Ryu R-S, Kang HW, Ko J-M, Kim HJ, et al. Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases. Mol Cytogenet. 2011;4:12. https:\/\/doi.org\/10.1186\/1755-8166-4-12.","journal-title":"Mol Cytogenet"},{"key":"732_CR9","doi-asserted-by":"publisher","first-page":"1958","DOI":"10.3390\/genes12121958","volume":"12","author":"P Dremsek","year":"2021","unstructured":"Dremsek P, Schwarz T, Weil B, Malashka A, Laccone F, Neesen J. Optical genome mapping in routine human genetic diagnostics-its advantages and limitations. Genes. 2021;12:1958. https:\/\/doi.org\/10.3390\/genes12121958.","journal-title":"Genes"},{"key":"732_CR10","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1002\/ajmg.a.31260","volume":"140","author":"U Wester","year":"2006","unstructured":"Wester U, Bondeson M, Edeby C, Anner\u00e9n G. Clinical and molecular characterization of individuals with 18p deletion: a genotype\u2013phenotype correlation. Am J Med Genet A. 2006;140:1164\u201371. https:\/\/doi.org\/10.1002\/ajmg.a.31260.","journal-title":"Am J Med Genet A"},{"key":"732_CR11","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000025777","volume":"100","author":"Q Jin","year":"2021","unstructured":"Jin Q, Qiang R, Cai B, Wang X, Cai N, Zhen S, et al. The genotype and phenotype of chromosome 18p deletion syndrome: case series. Medicine. 2021;100:e25777. https:\/\/doi.org\/10.1097\/MD.0000000000025777.","journal-title":"Medicine"},{"key":"732_CR12","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1097\/00125817-200201000-00003","volume":"4","author":"RL Schaub","year":"2002","unstructured":"Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002;4:15\u20139. https:\/\/doi.org\/10.1097\/00125817-200201000-00003.","journal-title":"Genet Med"},{"key":"732_CR13","doi-asserted-by":"publisher","first-page":"783","DOI":"10.18999\/nagjms.82.4.783","volume":"82","author":"TNU Le","year":"2020","unstructured":"Le TNU, Nguyen VN, Doan TDA, Doan HNB, Le PTQ, Le TL, et al. An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9\u00a0mb pure deletion at 18p11.32-11.22. Nagoya J Med Sci. 2020;82:783\u201390. https:\/\/doi.org\/10.18999\/nagjms.82.4.783.","journal-title":"Nagoya J Med Sci"},{"key":"732_CR14","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/sj.ejhg.5201718","volume":"15","author":"CH Brenk","year":"2007","unstructured":"Brenk CH, Prott E-C, Trost D, Hoischen A, Walldorf C, Radlwimmer B, et al. Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007;15:35\u201344. https:\/\/doi.org\/10.1038\/sj.ejhg.5201718.","journal-title":"Eur J Hum Genet"},{"key":"732_CR15","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/1471-2350-7-60","volume":"7","author":"B Maranda","year":"2006","unstructured":"Maranda B, Lemieux N, Lemyre E. Familial deletion 18p syndrome: case report. BMC Med Genet. 2006;7:60. https:\/\/doi.org\/10.1186\/1471-2350-7-60.","journal-title":"BMC Med Genet"},{"key":"732_CR16","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241914716","volume":"24","author":"LS Erbe","year":"2023","unstructured":"Erbe LS, Hoffjan S, Jan\u00dfen S, Kneifel M, Krause K, Gerding WM, et al. Exome sequencing and optical genome mapping in molecularly unsolved cases of Duchenne muscular dystrophy: identification of a causative X-chromosomal inversion disrupting the DMD gene. Int J Mol Sci. 2023;24:14716. https:\/\/doi.org\/10.3390\/ijms241914716.","journal-title":"Int J Mol Sci"},{"key":"732_CR17","doi-asserted-by":"publisher","unstructured":"Alesi V, Genovese S, Russo S, Giovannoni I, Barresi S, Tancredi C, METB-04. UTILITY OF OPTICAL GENOME MAPPING IN THE CHARACTERIZATION OF PAEDIATRIC CENTRAL NERVOUS SYSTEM TUMOURS. : ANALYSIS OF A MONO-INSTITUTIONAL SERIES OF 26 CASES. Neuro-Oncol. 2024;26 Supplement_4:0\u20130. https:\/\/doi.org\/10.1093\/neuonc\/noae064.245","DOI":"10.1093\/neuonc\/noae064.245"},{"key":"732_CR18","doi-asserted-by":"publisher","first-page":"4687","DOI":"10.3390\/cancers15194687","volume":"15","author":"A Gigu\u00e8re","year":"2023","unstructured":"Gigu\u00e8re A, Raymond-Bouchard I, Collin V, Claveau J-S, H\u00e9bert J, LeBlanc R. Optical genome mapping reveals the complex genetic landscape of myeloma. Cancers. 2023;15:4687. https:\/\/doi.org\/10.3390\/cancers15194687.","journal-title":"Cancers"},{"key":"732_CR19","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1186\/s13039-022-00619-9","volume":"15","author":"Y Yang","year":"2022","unstructured":"Yang Y, Hao W. Identification of a familial complex chromosomal rearrangement by optical genome mapping. Mol Cytogenet. 2022;15:41. https:\/\/doi.org\/10.1186\/s13039-022-00619-9.","journal-title":"Mol Cytogenet"},{"key":"732_CR20","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.3390\/genes14051016","volume":"14","author":"X Ke","year":"2023","unstructured":"Ke X, Yang H, Pan H, Jiang Y, Li M, Zhang H, et al. The application of optical genome mapping (OGM) in severe short stature caused by duplication of 15q14q21.3. Genes. 2023;14:1016. https:\/\/doi.org\/10.3390\/genes14051016.","journal-title":"Genes"},{"key":"732_CR21","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-025-00713-8","volume":"18","author":"MDM Del \u00c1guila","year":"2025","unstructured":"Del \u00c1guila MDM, Bernal M, V\u00edlchez JR, Romero B, Castilla JA, \u00c1lvarez G, et al. Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation. Mol Cytogenet. 2025;18:10. https:\/\/doi.org\/10.1186\/s13039-025-00713-8.","journal-title":"Mol Cytogenet"},{"key":"732_CR22","doi-asserted-by":"publisher","first-page":"e63814","DOI":"10.1002\/ajmg.a.63814","volume":"194","author":"JL Rodriguez-Gil","year":"2024","unstructured":"Rodriguez-Gil JL, Nagy PL, Francke U. Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder. Am J Med Genet A. 2024;194:e63814. https:\/\/doi.org\/10.1002\/ajmg.a.63814.","journal-title":"Am J Med Genet A"},{"key":"732_CR23","doi-asserted-by":"publisher","first-page":"63","DOI":"10.2147\/TACG.S465244","volume":"17","author":"Y Wang","year":"2024","unstructured":"Wang Y, Bi S, Shi X, Dai L. Optical genome mapping identifies a novel unbalanced translocation between chromosomes 4q and 6q leading to feeding difficulties and hypotonia in a neonate: a case report. Appl Clin Genet. 2024;17:63\u20139. https:\/\/doi.org\/10.2147\/TACG.S465244.","journal-title":"Appl Clin Genet"},{"key":"732_CR24","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199329007.001.0001","volume-title":"Gardner and sutherland\u2019s chromosome abnormalities and genetic counseling. Fifth edition","author":"RJM Gardner","year":"2018","unstructured":"Gardner RJM, Sutherland GR, Amor DJ. Gardner and sutherland\u2019s chromosome abnormalities and genetic counseling. Fifth edition. Oxford New York: Oxford University Press; 2018."},{"key":"732_CR25","doi-asserted-by":"publisher","first-page":"377","DOI":"10.3109\/19396368.2014.962710","volume":"60","author":"CA Jones","year":"2014","unstructured":"Jones CA, Kolomietz E, Maire G, Vlasschaert M, Joseph-George AM, Myles-Reid D, et al. PGD for a carrier of an intrachromosomal insertion using aCGH. Syst Biol Reprod Med. 2014;60:377\u201382. https:\/\/doi.org\/10.3109\/19396368.2014.962710.","journal-title":"Syst Biol Reprod Med"}],"container-title":["Molecular Cytogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-025-00732-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13039-025-00732-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-025-00732-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T12:20:55Z","timestamp":1760444455000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/s13039-025-00732-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,14]]},"references-count":25,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["732"],"URL":"https:\/\/doi.org\/10.1186\/s13039-025-00732-5","relation":{},"ISSN":["1755-8166"],"issn-type":[{"value":"1755-8166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,14]]},"assertion":[{"value":"12 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 September 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Ethical approval was not required for the studies involving humans because the submitted report is derived from a hospital case of a patient who was sent to our institution by the attending physician. Therefore, Ethical Committee approval was unnecessary since no supplementary analysis was performed on the patient, except for the diagnostic genetic test. Ethical approval was not required for this study following local guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The study was conducted according to the guidelines of the Declaration of Helsinki. We obtained written consent from the patient beforehand, as required by our regulations. The human samples used in this study were acquired from a byproduct of routine care or industry.","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":"27"}}