{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:34:01Z","timestamp":1783038841877,"version":"3.54.6"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"11-12","license":[{"start":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T00:00:00Z","timestamp":1640649600000},"content-version":"vor","delay-in-days":57,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2\u00a0months due to congestive cardiac failure along with jaundice and orthopnea. She had growth retardation, intellectual disability, primary amenorrhea, lack of secondary sexual character development and dysmorphic features like low posterior hairline, shield chest and cubitus valgus. She had dilated cardiomyopathy (DCM) with intracardiac thrombus on echocardiography. Skeletal survey revealed short fourth metacarpal\/tarsal on limbs. Karyotyping showed a mosaic pattern, with 45, X\/46, X,r(X)(p22.3q28), i.e. Turner syndrome karyotype with ring chromosome. Her heart failure with reduced ejection fraction was managed with vasopressor along with anticoagulant and given oral contraceptive pills for hormone replacement therapy. The ring chromosomal pattern of karyotype in this patient and DCM is a rare cardiological phenomenon that can be associated with Turner syndrome, making this case a unique one.<\/jats:p>","DOI":"10.1093\/omcr\/omab111","type":"journal-article","created":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T15:49:30Z","timestamp":1640706570000},"source":"Crossref","is-referenced-by-count":4,"title":["Decoding enigma: Turner syndrome with ring chromosome"],"prefix":"10.1093","volume":"2021","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1575-2446","authenticated-orcid":false,"given":"Debarup","family":"Das","sequence":"first","affiliation":[{"name":"Department of General Medicine, Medical College and Hospital, Kolkata, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9306-545X","authenticated-orcid":false,"given":"Debaditya","family":"Roy","sequence":"additional","affiliation":[{"name":"Rheumatology, Manipal Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaushik","family":"Basu","sequence":"additional","affiliation":[{"name":"Department of General Medicine, Medical College and Hospital, Kolkata, India"},{"name":"Rheumatology, Medical College and Hospital, Kolkata, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupam","family":"Sarkar","sequence":"additional","affiliation":[{"name":"Department of General Medicine, Medical College and Hospital, Kolkata, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,12,28]]},"reference":[{"key":"2021122815185912300_ref1","doi-asserted-by":"crossref","first-page":"10\u201325","DOI":"10.1210\/jc.2006-1374","article-title":"Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group","volume":"92","author":"Bondy","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"2021122815185912300_ref2","first-page":"27","article-title":"Cardiomyopathy, conduction abnormalities, and aortic root dilation in Turner syndrome","volume":"13","author":"Skemp","year":"1998  1","journal-title":"Int Pediatr"},{"key":"2021122815185912300_ref3","first-page":"3","volume-title":"WAIS-IV Clinical Use and Interpretation","author":"Lawrence","year":"2010"},{"key":"2021122815185912300_ref4","volume-title":"StatPearls [Internet]","author":"Sarathi","year":"2021"},{"key":"2021122815185912300_ref5","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1210\/er.2011-1059","article-title":"Cardiovascular phenotype in Turner syndrome\u2014integrating cardiology","volume":"33","author":"Mortensen","year":"2012  1","journal-title":"Endocr Rev"},{"key":"2021122815185912300_ref6","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s004310050038","article-title":"Serum liver enzymes in Turner syndrome","volume":"159","author":"Larizza","year":"2000","journal-title":"Eur J Pediatr"},{"key":"2021122815185912300_ref7","first-page":"223","article-title":"Um Caso de s\u00edndroma de Turner com cardiomiopatia dilatada [a case of Turner syndrome with dilated cardiomyopathy]","volume":"1","author":"Carmo","year":"1988","journal-title":"Acta Med Port"},{"key":"2021122815185912300_ref8","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s13224-013-0411-5","article-title":"Turner syndrome: fifteen years' experience in India","volume":"64","author":"Maiti","year":"2014","journal-title":"J Obstet Gynaecol India"},{"key":"2021122815185912300_ref9","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1111\/j.1399-0004.1983.tb01980.x","article-title":"Turner syndrome patients with a ring X chromosome","volume":"23","author":"Berkovitz","year":"1983","journal-title":"Clin Genet"},{"key":"2021122815185912300_ref10","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1007\/s13312-021-2093-x","article-title":"Karyotype-phenotype correlation in Turner syndrome at a single center in Eastern India","volume":"58","author":"Mondal","year":"2021  15","journal-title":"Indian Pediatr"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2021\/11-12\/omab111\/41940677\/omab111.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2021\/11-12\/omab111\/41940677\/omab111.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T15:49:41Z","timestamp":1640706581000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omab111\/6485138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,1]]},"references-count":10,"journal-issue":{"issue":"11-12","published-print":{"date-parts":[[2021,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omab111","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,11]]},"published":{"date-parts":[[2021,11,1]]},"article-number":"omab111"}}