{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:59:12Z","timestamp":1760151552733,"version":"build-2065373602"},"reference-count":18,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Chiang Mai University Research Fund CMU-2565, the Thailand Research fund","award":["DPG-6280003"],"award-info":[{"award-number":["DPG-6280003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases.<\/jats:p>","DOI":"10.3390\/diagnostics12040885","type":"journal-article","created":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T21:22:39Z","timestamp":1648848159000},"page":"885","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review"],"prefix":"10.3390","volume":"12","author":[{"given":"Kuntharee","family":"Traisrisilp","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri","family":"Yanase","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Nakornping Hospital, Chiang Mai 50180, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krittaya","family":"Phirom","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3389-6478","authenticated-orcid":false,"given":"Theera","family":"Tongsong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e1842","DOI":"10.1002\/mgg3.1842","article-title":"The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review","volume":"9","author":"Chen","year":"2021","journal-title":"Mol. 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Case Rep."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.rbmo.2017.10.115","article-title":"Fecundity in an infertile man with r(15)\u2014A challenge to the current paradigm","volume":"36","author":"Kalantari","year":"2018","journal-title":"Reprod. Biomed. Online"},{"key":"ref_6","first-page":"e204","article-title":"Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report","volume":"35","year":"2018","journal-title":"Pediatr. Dermatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1002\/pd.168","article-title":"Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15","volume":"21","author":"Liu","year":"2001","journal-title":"Prenat. 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Genet."},{"key":"ref_18","first-page":"406","article-title":"Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing","volume":"34","author":"Pan","year":"2017","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/4\/885\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:48:35Z","timestamp":1760136515000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/4\/885"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,1]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,4]]}},"alternative-id":["diagnostics12040885"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics12040885","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2022,4,1]]}}}