{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T04:02:14Z","timestamp":1792987334803,"version":"4.5.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T00:00:00Z","timestamp":1600905600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T00:00:00Z","timestamp":1600905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>A 7-year-old female was referred for diagnosis due to gross facial dysmorphism and severe developmental delay. She presented with dysmorphic features, hypo\/hyper pigmentation of the skin, intellectual disability and craniosynostosis. G-banding chromosome analysis suggested mos 46,XX,psu idic(18)(p11.2)[25]\/46,XX,r(?18)[30]. Additional analysis by molecular karyotyping suggested pure partial deletion of 15\u2009Mb on 18p (18p11.32p11.21). Lastly, multiple rearrangements and detection of a third cell line (ring chr18 and interstitial deletion) of chr18 was observed by multi-color banding.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>The current study presents a novel case of chromosomal abnormalities pertaining to chromosome 18 across 3 cell lines, which were delineated with a combinatorial approach of diagnostic methods.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12920-020-00796-9","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T12:02:47Z","timestamp":1600948967000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report"],"prefix":"10.1186","volume":"13","author":[{"given":"Harsh","family":"Sheth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunil","family":"Trivedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ketan","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepika","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayesh","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8315-9436","authenticated-orcid":false,"given":"Frenny","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,9,24]]},"reference":[{"key":"796_CR1","doi-asserted-by":"crossref","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, Hilsenbeck SG, Stratton RF, et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet. 1999;85:455\u201362.","journal-title":"Am J Med Genet"},{"key":"796_CR2","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/1096-8628(20010701)101:3<226::AID-AJMG1349>3.0.CO;2-#","volume":"101","author":"P Stankiewicz","year":"2001","unstructured":"Stankiewicz P, Brozek I, Helias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, et al. Clinical and molecular cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet. 2001;101:226\u201339.","journal-title":"Am J Med Genet"},{"key":"796_CR3","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/ajmg.10700","volume":"113","author":"A Baumer","year":"2002","unstructured":"Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Rothlisberger B, Schinzel A. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. 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This process is in accordance with the Helsinki declaration.A written informed consent was obtained from the parents before enrolling for the investigations [This was in accordance with the requirement of the institutional ethics committee].","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the parents for publication of identifying images and clinical details since the patient was under the age of 18\u2009years. A copy of the written consent is available for review.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no conflict of interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"141"}}