{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T13:12:31Z","timestamp":1741698751055,"version":"3.38.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1016\/j.tjog.2024.12.011","type":"journal-article","created":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T15:54:57Z","timestamp":1741103697000},"page":"334-338","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal diagnosis of a 5.44-Mb de novo 22q13.31q13.33 deletion encompassing SHANK3 associated with mosaicism for r(22)(p11.2q11.31) and monosomy 22 in a fetus with severe right hydronephrosis and hydroureter on ultrasound and determination of a maternal origin of the deletion and r(22) by quantitative fluorescent polymerase chain reaction"],"prefix":"10.1016","volume":"64","author":[{"given":"Chih-Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang-Tzu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yen-Ting","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peih-Shan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Wen","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2024.12.011_bib1","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/pd.517","article-title":"Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction","volume":"23","author":"Chen","year":"2003","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2024.12.011_bib2","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1002\/pd.1277","article-title":"Prenatal diagnosis of partial trisomy 16q and distal 22q13 deletion associated with dolichocephaly and frontal bossing on second-trimester ultrasound","volume":"25","author":"Chen","year":"2005","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2024.12.011_bib3","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/S1028-4559(10)60105-2","article-title":"Partial trisomy 16p (16p12.2\u2192pter) and partial monosomy 22q (22q13.31 \u2192qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization","volume":"49","author":"Chen","year":"2010","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2024.12.011_bib4","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/S1028-4559(10)60117-9","article-title":"Recurrent distal 16q duplication and terminal 22q deletion: prenatal diagnosis and genetic counseling","volume":"49","author":"Chen","year":"2010","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2024.12.011_bib5","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.tjog.2012.01.029","article-title":"Prenatal diagnosis of partial trisomy 16p (16p12.2\u2192pter) and partial monosomy 22q (22q13.31\u2192qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester","volume":"51","author":"Chen","year":"2012","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2024.12.011_bib6","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.tjog.2016.05.003","article-title":"22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound","volume":"55","author":"Chen","year":"2016","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2024.12.011_bib7","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.ejmg.2010.06.004","article-title":"A\u00a0de novo 7.9 Mb deletion in 22q13.2\u2192qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings","volume":"53","author":"Chen","year":"2010","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib8","first-page":"79","article-title":"Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome","volume":"22","author":"Chen","year":"2011","journal-title":"Genet Counsel"},{"key":"10.1016\/j.tjog.2024.12.011_bib9","series-title":"GeneReviews\u00ae [Internet]","article-title":"Phelan-McDermid syndrome-SHANK3 related","author":"Phelan","year":"1993"},{"key":"10.1016\/j.tjog.2024.12.011_bib10","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1177\/000992280404300106","article-title":"22q13 deletion syndrome: an update and review for the primary pediatrician","volume":"43","author":"Havens","year":"2004","journal-title":"Clin Pediatr (Phila)."},{"key":"10.1016\/j.tjog.2024.12.011_bib11","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1136\/jmg.40.8.575","article-title":"Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3\/PROSAP2 in the major neurological symptoms","volume":"40","author":"Wilson","year":"2003","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib12","doi-asserted-by":"crossref","DOI":"10.1126\/science.aaf2669","article-title":"Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons","volume":"352","author":"Yi","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.tjog.2024.12.011_bib13","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1086\/321293","article-title":"Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome","volume":"69","author":"Bonaglia","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib14","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.2005.038604","article-title":"Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome","volume":"43","author":"Bonaglia","year":"2006","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib15","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s00439-002-0713-7","article-title":"FISH-mapping of a 100-kb terminal 22q13 deletion","volume":"110","author":"Anderlid","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib16","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1933","article-title":"Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders","volume":"39","author":"Durand","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib17","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1086\/522590","article-title":"Contribution of SHANK3 mutations to autism spectrum disorder","volume":"81","author":"Moessner","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib18","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ejhg.2012.175","article-title":"Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders","volume":"21","author":"Boccuto","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.tjog.2024.12.011_bib19","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/(SICI)1097-0223(200001)20:1<76::AID-PD752>3.0.CO;2-M","article-title":"Prenatal diagnosis of mosaicism for a del(22)(q13)","volume":"20","author":"Riegel","year":"2000","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2024.12.011_bib20","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1002\/pd.195","article-title":"Prenatal diagnosis of mosaicism for deletion 22q13.3","volume":"21","author":"Phelan","year":"2001","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2024.12.011_bib21","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1002\/pd.955","article-title":"A\u00a0case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum","volume":"24","author":"Delc\u00e1n","year":"2004","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2024.12.011_bib22","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1002\/pd.2110","article-title":"Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally","volume":"28","author":"Maitz","year":"2008","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2024.12.011_bib23","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1111\/j.1447-0756.2009.01040.x","article-title":"Prenatal diagnosis of mosaic ring 22 duplication\/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound","volume":"35","author":"Ko\u00e7","year":"2009","journal-title":"J\u00a0Obstet Gynaecol Res"},{"key":"10.1016\/j.tjog.2024.12.011_bib24","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1097\/MCD.0b013e32833effb1","article-title":"A\u00a0unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor","volume":"20","author":"Kirkpatrick","year":"2011","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.tjog.2024.12.011_bib25","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.anpedi.2021.02.007","article-title":"Isolated fetal pericardial effusion follow-up: should we worry?","volume":"96","author":"Hidalgo Sanz","year":"2022","journal-title":"An Pediatr (Engl Ed)"},{"key":"10.1016\/j.tjog.2024.12.011_bib26","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.961196","article-title":"Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: a report of 21 cases from a medical center and review of the literature","volume":"13","author":"Hao","year":"2022","journal-title":"Front Genet"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455925000348?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455925000348?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T15:40:16Z","timestamp":1741621216000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455925000348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["S1028455925000348"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2024.12.011","relation":{},"ISSN":["1028-4559"],"issn-type":[{"type":"print","value":"1028-4559"}],"subject":[],"published":{"date-parts":[[2025,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal diagnosis of a 5.44-Mb de novo 22q13.31q13.33 deletion encompassing SHANK3 associated with mosaicism for r(22)(p11.2q11.31) and monosomy 22 in a fetus with severe right hydronephrosis and hydroureter on ultrasound and determination of a maternal origin of the deletion and r(22) by quantitative fluorescent polymerase chain reaction","name":"articletitle","label":"Article Title"},{"value":"Taiwanese Journal of Obstetrics and Gynecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.tjog.2024.12.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V\u00e9","name":"copyright","label":"Copyright"}]}}