{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:38:10Z","timestamp":1761745090694,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,11,21]]},"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:p>We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks\u2019 gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks\u2019 gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology.<\/jats:p>","DOI":"10.1136\/bcr-2019-231705","type":"journal-article","created":{"date-parts":[[2019,12,31]],"date-time":"2019-12-31T04:54:20Z","timestamp":1577768060000},"page":"e231705","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Paternal uniparental disomy for chromosome 14: prenatal management"],"prefix":"10.1136","volume":"12","author":[{"given":"Joana Isabel","family":"Igreja da Silva","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Braga Hospital, Braga, Portugal"}]},{"given":"Barbara","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Braga Hospital, Braga, Portugal"}]},{"given":"Alexandra","family":"Cadilhe","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Braga Hospital, Braga, Portugal"}]},{"given":"Cristina","family":"Nogueira-Silva","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Braga Hospital, Braga, Portugal"},{"name":"Life and Health Sciences Research Institute, School of Medicine, University of Minho, ICVS 3B\u2019s Associate Laboratory, Braga, Portugal"}]}],"member":"239","published-online":{"date-parts":[[2019,12,30]]},"reference":[{"key":"2025082701040103000_12.12.e231705.1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00011"},{"key":"2025082701040103000_12.12.e231705.2","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/j.1399-0004.2010.01547.x","article-title":"Ccmg guidelines: prenatal and postnatal diagnostic testing for uniparental disomy","volume":"79","author":"Dawson","year":"2011","journal-title":"Clin 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studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)","volume":"23","author":"Kagami","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2025082701040103000_12.12.e231705.11","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/ajmg.a.30200","article-title":"Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype","volume":"130A","author":"Stevenson","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2025082701040103000_12.12.e231705.12","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.jfma.2018.12.010","article-title":"Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: a case report","volume":"118","author":"Chen","year":"2019","journal-title":"J Formos Med Assoc"}],"container-title":["BMJ Case 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