{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T15:14:15Z","timestamp":1776870855525,"version":"3.51.2"},"reference-count":21,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>Introduction: Chromosomal abnormalities are mostly found in 0.5\u20130.8% of live-born infants with developmental and morphological defects. Paracentric inversions are structural intrachromosomal rearrangements resulting in a risk of chromosomally unbalanced gametes in carriers. Case Presentation: Herein, we report a patient with dicentric rearrangement of chromosome 18 due to maternal paracentric inversion of chromosome 18. The patient was a girl, aged 3 years and 11 months. She was referred due to multiple congenital abnormalities, severe intellectual disability, and motor retardation. She had microcephaly, prominent metopic suture, synophrys, epicanthic folds, telecanthus, wide-set alae nasi, wide columella, bilateral cleft lip and palate, pectus carinatum, umbilical hernia, pes planus, and anteriorly displaced anus. She had bilateral external auditory canal stenosis and mild right-sided and moderate left-sided sensorineural hearing loss. Echocardiography showed secundum-type atrial septal defect and mild tricuspid failure. Brain magnetic resonance imaging showed only thinning of posterior areas of the corpus callosum. Chromosome analysis showed 46,XX,dic rec(18) by GTG and C banding. Dicentric chromosome was confirmed by fluorescence in situ hybridization analysis. Paternal karyotype was normal 46,XY but maternal chromosome analysis showed a paracentric inversion in chromosome 18 with 46,XX,inv(18)(q11.2?q21.3?) karyotype. Array CGH was performed on a peripheral blood sample from the patient and showed duplication at 18p11.32p11.21 and 18q11.1q11.2, and deletion at 18q21.33q23. The patient\u2019s final karyotype is arr 18p11.32p11.21(64,847_15,102,598)\u00d73,18q11.1q11.2(18,542,074_22,666,470)\u00d73,18q21.33q23(59,784,364_78,010,032)\u00d71. Discussion: To the best of our knowledge, this is the first report of a patient with dicentric chromosome 18 due to a parental paracentric inversion of chromosome 18. We present the genotype-phenotype correlation with literature review. <\/jats:p>","DOI":"10.1159\/000527160","type":"journal-article","created":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T22:00:47Z","timestamp":1675288847000},"page":"246-253","source":"Crossref","is-referenced-by-count":3,"title":["Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH"],"prefix":"10.1159","volume":"14","author":[{"given":"\u00d6zlem","family":"Anla\u015f","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akg\u00fcn","family":"\u00d6lmez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8640-0176","authenticated-orcid":false,"given":"Birsen","family":"Karaman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00fcsun","family":"D\u00fczcan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9415-1640","authenticated-orcid":false,"given":"Sel\u00e7uk","family":"Y\u00fcksel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Funda","family":"T\u00fcmkaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fclseren","family":"Ba\u011fc\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5287-8526","authenticated-orcid":false,"given":"Cavidan Nur","family":"Semerci G\u00fcnd\u00fcz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,2,1]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.12.002"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000097"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159\/000328833"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086\/302041"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050857"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200604000-00022"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2008.12.002"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31850"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.001"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02726.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19981228)80:5%3c487::aid-ajmg9%3e3.0.co;2-y"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01165"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197403"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10173"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/lary.24769"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550207"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065052"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/pd.192"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273495"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201281"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.5.366"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/14\/3\/246\/3954693\/000527160.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/14\/3\/246\/3954693\/000527160.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:23:34Z","timestamp":1745421814000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000527160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":21,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,5,31]]},"published-print":{"date-parts":[[2023,6,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000527160","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]}}}