{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:55Z","timestamp":1761718075894},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25<jats:sup>th<\/jats:sup> percentile) and his height 120 cm (50<jats:sup>th<\/jats:sup> percentile). High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18)(q21.32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation.<\/jats:p>","DOI":"10.1186\/1755-8166-1-24","type":"journal-article","created":{"date-parts":[[2008,11,11]],"date-time":"2008-11-11T19:17:01Z","timestamp":1226431021000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report"],"prefix":"10.1186","volume":"1","author":[{"given":"Emmanouil","family":"Manolakos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadezda","family":"Kosyakova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loreta","family":"Thomaidis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rozita","family":"Neroutsou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Weise","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markos","family":"Mihalatos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro","family":"Orru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haris","family":"Kokotas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Kitsos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael B","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,11,11]]},"reference":[{"key":"24_CR1","volume-title":"Walter de Gruyter","author":"A Schinzel","year":"2001","unstructured":"Schinzel A: A catalogue of unbalanced chromosome aberrations in man. In Walter de Gruyter. Berlin-NewYork; 2001."},{"key":"24_CR2","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1159\/000064043","volume":"97","author":"T Liehr","year":"2002","unstructured":"Liehr T, Weise A, Heller A, Starke H, Mrasek K, Kuechler A, Weier HU, Claussen U: Multicolor chromosome banding (MCB) with YAC\/BAC-based probes and region-specific microdissection DNA libraries. Cytogenet Genome Res 2002, 97: 43\u201350. 10.1159\/000064043","journal-title":"Cytogenet Genome Res"},{"key":"24_CR3","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1086\/491719","volume":"77","author":"BB de Vries","year":"2005","unstructured":"de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005, 77: 606\u2013616. 10.1086\/491719","journal-title":"Am J Hum Genet"},{"key":"24_CR4","first-page":"926","volume":"56","author":"GA Silverman","year":"1995","unstructured":"Silverman GA, Schneider S, Massa HF, Flint A, Lalande M, Leonard JC, Overhauser J, Engh G, Trask BJ: The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet 1995, 56: 926\u2013937.","journal-title":"Am J Hum Genet"},{"key":"24_CR5","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<280::AID-AJMG12>3.0.CO;2-N","volume":"69","author":"JD Cody","year":"1997","unstructured":"Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ: Preferential loss of the paternal alleles in the 18q- syndrome. Am J Med Genet 1997, 69: 280\u2013286. 10.1002\/(SICI)1096-8628(19970331)69:3<280::AID-AJMG12>3.0.CO;2-N","journal-title":"Am J Med Genet"},{"key":"24_CR6","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z","volume":"85","author":"JD Cody","year":"1999","unstructured":"Cody JD, Ghidoni PD, DuPont BR, Hale DE, Helsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI: Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999, 85: 455\u2013462. 10.1002\/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z","journal-title":"Am J Med Genet"},{"key":"24_CR7","doi-asserted-by":"publisher","first-page":"1858","DOI":"10.1002\/ajmg.a.31850","volume":"143A","author":"I Feenstra","year":"2007","unstructured":"Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM: Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet 2007, 143A: 1858\u20131867. 10.1002\/ajmg.a.31850","journal-title":"Am J Med Genet"},{"key":"24_CR8","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1002\/(SICI)1096-8628(19960409)67:2<172::AID-AJMG7>3.0.CO;2-U","volume":"67","author":"RN Mahr","year":"1996","unstructured":"Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM: Neuropsychiatry of 18q- syndrome. Am J Med Genet Neuropsych Genet 1996, 67: 172\u2013178. Publisher Full Text 10.1002\/(SICI)1096-8628(19960409)67:2<172::AID-AJMG7>3.0.CO;2-U","journal-title":"Am J Med Genet Neuropsych Genet"},{"key":"24_CR9","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1136\/jmg.13.5.366","volume":"13","author":"AM Vianna-Morgante","year":"1976","unstructured":"Vianna-Morgante AM, Nozaki MJ, Ortega CC, Coates V, Yamamura Y: Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. J Med Genet 1976, 13: 366\u2013370. 10.1136\/jmg.13.5.366","journal-title":"J Med Genet"},{"key":"24_CR10","first-page":"467","volume":"18","author":"J de Grouchy","year":"1966","unstructured":"de Grouchy J, Ausannaire M, Brissaud HE, Lamy M: Aneusomie de recombinaison: Three further examples. Am J Hum Genet 1966, 18: 467\u2013484.","journal-title":"Am J Hum Genet"},{"key":"24_CR11","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1007\/s004390050857","volume":"103","author":"W Courtens","year":"1998","unstructured":"Courtens W, Grossman D, van Roy N, Messiaen L, Vamos E, Toppet V, Haumont D, Streydio C, Jauch A, Vermeesch JR, Speleman F: Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Hum Genet 1998, 103: 497\u2013505. 10.1007\/s004390050857","journal-title":"Hum Genet"},{"key":"24_CR12","first-page":"785","volume":"58","author":"G Floridia","year":"1996","unstructured":"Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O: The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 1996, 58: 785\u2013796.","journal-title":"Am J Hum Genet"},{"key":"24_CR13","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1111\/j.1399-0004.1993.tb04431.x","volume":"43","author":"PD Maaswinkel-Mooij","year":"1993","unstructured":"Maaswinkel-Mooij PD, de Jong P, Beverstock GC: 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome. Clin Genet 1993, 43: 76\u201378.","journal-title":"Clin Genet"},{"key":"24_CR14","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/ajmg.1320530317","volume":"53","author":"MGEM Ausems","year":"1994","unstructured":"Ausems MGEM, Bhola SL, Post-Blok CA, Hennekam RCM, de France HF: 18q- and 18q+ mosaicism in a mentally retarded boy. Am J Med Genet 1994, 53: 296\u2013299. 10.1002\/ajmg.1320530317","journal-title":"Am J Med Genet"},{"key":"24_CR15","first-page":"395","volume":"17","author":"GG Oudesluijs","year":"2006","unstructured":"Oudesluijs GG, Hulzebos CV, Sikkema-Raddatz B, van Essen AJ: Mosaic isodicentric chromosome 18q: sixth report and review. Genet Couns 2006, 17: 395\u2013400.","journal-title":"Genet Couns"},{"key":"24_CR16","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/ajmg.a.20644","volume":"127A","author":"M Meins","year":"2004","unstructured":"Meins M, Bohm D, Grossmann A, Herting E, Fleckenstein B, Fauth C, Speicher MR, Schindler R, Zoll B, Bartels I, Burfeind P: First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter-q22.1::q22.1-pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome. Am J Med Genet 2004, 127A: 58\u201364. 10.1002\/ajmg.a.20644","journal-title":"Am J Med Genet"},{"key":"24_CR17","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1002\/1096-8628(20010801)102:2<192::AID-AJMG1445>3.0.CO;2-D","volume":"102","author":"MJ Sutcliffe","year":"2001","unstructured":"Sutcliffe MJ, Mueller OT, Kousseff BG, Dumont DP, McFarland JA, Mawani F, Conforto D, Ranells JD: Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18\/47,XX,+del(18)(q22)\/46,XX. Am J Med Genet 2001, 102: 192\u2013199. 10.1002\/1096-8628(20010801)102:2<192::AID-AJMG1445>3.0.CO;2-D","journal-title":"Am J Med Genet"},{"key":"24_CR18","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1093\/hmg\/7.4.661","volume":"7","author":"M Bugge","year":"1998","unstructured":"Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brondum-Nielsen K, Morton N, Mikkelsen M: Non-disjunction of chromosome 18. Hum Mol Genet 1998, 7: 661\u2013669. 10.1093\/hmg\/7.4.661","journal-title":"Hum Mol Genet"},{"key":"24_CR19","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1093\/humrep\/13.2.313","volume":"13","author":"P Nicolaidis","year":"1998","unstructured":"Nicolaidis P, Petersen MB: Origin and mechanisms of non-disjunction in humam autosomal trisomies. Hum Reprod 1998, 13: 313\u2013319. 10.1093\/humrep\/13.2.313","journal-title":"Hum Reprod"},{"key":"24_CR20","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/j.ejmg.2007.06.001","volume":"50","author":"N Souraty","year":"2007","unstructured":"Souraty N, Sanlaville D, Chedid R, Le Lorc'h M, MMaurin ML, Ghanem L, Maalouf S, Vekemans M, Megarbane A: Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q. Eur J Med Genet 2007, 50: 379\u2013385. 10.1016\/j.ejmg.2007.06.001","journal-title":"Eur J Med Genet"},{"key":"24_CR21","doi-asserted-by":"publisher","first-page":"1914","DOI":"10.1073\/pnas.86.6.1914","volume":"86","author":"C Wong","year":"1989","unstructured":"Wong C, Kazazian HH Jr, Stetten G, Earnshaw WC, van Keuren ML, Antonarakis SE: Molecular mechanism in the formation of a human ring chromosome 21. Proc Natl Acad Sci USA 1989, 86: 1914\u20131918. 10.1073\/pnas.86.6.1914","journal-title":"Proc Natl Acad Sci USA"},{"key":"24_CR22","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1136\/jmg.2007.054007","volume":"45","author":"E Rossi","year":"2008","unstructured":"Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O: Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet 2008, 45: 147\u2013154. 10.1136\/jmg.2007.054007","journal-title":"J Med Genet"},{"issue":"Spec No 1","key":"24_CR23","doi-asserted-by":"publisher","first-page":"R57","DOI":"10.1093\/hmg\/ddh073","volume":"13","author":"CJ Shaw","year":"2004","unstructured":"Shaw CJ, Lupski JR: Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004, 13(Spec No 1):R57\u201364. 10.1093\/hmg\/ddh073","journal-title":"Hum Mol Genet"},{"key":"24_CR24","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1159\/000095921","volume":"115","author":"F Erdogan","year":"2006","unstructured":"Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, M\u00fcller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 2006, 115: 247\u2013253. 10.1159\/000095921","journal-title":"Cytogenet Genome Res"},{"key":"24_CR25","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1136\/jmg.2007.052787","volume":"12","author":"M de Gregori","year":"2007","unstructured":"de Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previder\u00e9 C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O: Cryptic deletions are a common finding in \"balanced\" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007, 12: 750\u2013762. 10.1136\/jmg.2007.052787","journal-title":"J Med Genet"}],"container-title":["Molecular Cytogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1755-8166-1-24.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:54:57Z","timestamp":1630457697000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-1-24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,11]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["24"],"URL":"https:\/\/doi.org\/10.1186\/1755-8166-1-24","relation":{},"ISSN":["1755-8166"],"issn-type":[{"value":"1755-8166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,11]]},"assertion":[{"value":"28 July 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2008","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2008","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"24"}}