{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T23:01:16Z","timestamp":1771974076522,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Obstetrics and Gynecology"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430\u2009g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2\u2009h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.<\/jats:p>","DOI":"10.1155\/2014\/495702","type":"journal-article","created":{"date-parts":[[2014,10,20]],"date-time":"2014-10-20T17:04:16Z","timestamp":1413824656000},"page":"1-4","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography"],"prefix":"10.1155","volume":"2014","author":[{"given":"Ingrid Schwach Werneck","family":"Britto","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of S\u00e3o Paulo (FCMSCSP), 01221-020 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Regina Silva Herbest","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of S\u00e3o Paulo (FCMSCSP), 01221-020 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giselle Darahem","family":"Tedesco","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of S\u00e3o Paulo (FCMSCSP), 01221-020 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina Leite","family":"Drummond","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of S\u00e3o Paulo (FCMSCSP), 01221-020 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz Claudio Silva","family":"Bussamra","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of S\u00e3o Paulo (FCMSCSP), 01221-020 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6145-2532","authenticated-orcid":true,"given":"Edward","family":"Araujo J\u00fanior","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Federal University of S\u00e3o Paulo (UNIFESP), Rua Carlos Weber 956, Apartamento 113 Visage, 05303-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo","family":"Ruano","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Baylor College of Medicine and Texas Children\u2019s Hospital, Houston, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone Hernandez","family":"Ruano","sequence":"additional","affiliation":[{"name":"Department of Genetics, Federal University of S\u00e3o Paulo (UNIFESP), 77030 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Mendes","family":"Aldrighi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of S\u00e3o Paulo (FCMSCSP), 01221-020 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2295"},{"key":"2","first-page":"181","volume":"28","year":"1987","journal-title":"American Journal of Medical Genetics"},{"issue":"2","key":"3","first-page":"167","volume":"1","year":"1990","journal-title":"Genetic Counseling"},{"issue":"1","key":"4","first-page":"138","volume":"85","year":"1990","journal-title":"Human Genetics"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591082"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30035"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200912"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290119"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0030-z"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.060442"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1002\/pd.168"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1707"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1086\/429842"},{"issue":"18","key":"14","first-page":"2204","volume":"143","year":"2007","journal-title":"The American Journal of Medical Genetics. 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