{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:52:29Z","timestamp":1787017949700,"version":"build-2736575974"},"reference-count":26,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"abstract":"<jats:p>Introduction: 4q35 deletion is a rare chromosomal syndrome with a wide range of phenotypes, which can be challenging to detect through prenatal ultrasound. This study aimed to summarize the fetal phenotypes of patients with 4q35 deletion. Case Presentation: The study included four fetuses with 4q35 deletion, with detailed records of prenatal ultrasound and genetic testing results. These cases included following phenotypes, fetal growth restriction (FGR) (2\/4), cystic hygroma (2\/4), single umbilical artery (1\/4), and fused kidney (1\/4). One case was terminated, while the other three were born and showed no obvious abnormalities at the 1-year follow-up. Previous reports have described the fetal phenotype of 4q35 deletion in 6 patients from five families, with prenatal phenotypes including FGR (2\/6), cardiac structural abnormalities (1\/6), brain ventriculomegaly (1\/6), oligohydramnios (1\/6), and multicystic dysplastic kidneys (1\/6). Conclusion: Overall, the phenotypes of fetuses with 4q35 deletion are diverse, with FGR potentially being a significant phenotype in these cases.<\/jats:p>","DOI":"10.1159\/000540378","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T17:03:26Z","timestamp":1722531806000},"page":"85-91","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal Diagnosis of Fetuses with 4q35 Deletion: Case Series and Review of the Literature"],"prefix":"10.1159","volume":"164","author":[{"given":"Qianzhu","family":"Jiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haihua","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,8,1]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01395.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20537"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4002111"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-021-03926-y"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2015.08.032"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01158.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12771"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.19-27921"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3892\/br.2018.1115"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M610590200"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13134"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20181621"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2021.145698"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14805"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.10746"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/S0377-1237(11)60077-4"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-5-21"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35502"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32834e9216"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-47"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-021-00573-y"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37097"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfv465"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4844"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-0232"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.838737"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/cgr\/article-pdf\/164\/2\/85\/4284647\/000540378.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/cgr\/article-pdf\/164\/2\/85\/4284647\/000540378.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T11:31:14Z","timestamp":1745407874000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000540378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,1]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,10,2]]},"published-print":{"date-parts":[[2024,10,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000540378","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,1]]}}}