{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:30:59Z","timestamp":1787319059898,"version":"build-2736575974"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Shenzhend Longgang Science and Technology Development Foundation","award":["LGKCYLWS2020106"],"award-info":[{"award-number":["LGKCYLWS2020106"]}]},{"name":"Foundation of Longgang District Key Laboratory of Birth Defects Prevention","award":["LGKCZSYS2018000010"],"award-info":[{"award-number":["LGKCZSYS2018000010"]}]},{"name":"Medical and Health Technology Research Project, Longgang District of Shenzhen City","award":["LGKCYLWS2021000024"],"award-info":[{"award-number":["LGKCYLWS2021000024"]}]},{"name":"Shenzhen Science and Technology Project","award":["JCYJ20220530162412029"],"award-info":[{"award-number":["JCYJ20220530162412029"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pregnancy Childbirth"],"DOI":"10.1186\/s12884-024-06920-2","type":"journal-article","created":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T11:02:03Z","timestamp":1730890923000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?"],"prefix":"10.1186","volume":"24","author":[{"given":"Xiaojin","family":"Luo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyan","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Pei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengxiang","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,6]]},"reference":[{"issue":"1","key":"6920_CR1","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1038\/s41572-021-00276-z","volume":"7","author":"BA Kozel","year":"2021","unstructured":"Kozel BA, Barak B, Kim CA, et al. <ArticleTitle Language=\u201cEn\u201d>Williams syndrome[J]. Nat Rev Dis Primers. 2021;7(1):42. https:\/\/doi.org\/10.1038\/s41572-021-00276-z.","journal-title":"Nat Rev Dis Primers"},{"issue":"12","key":"6920_CR2","doi-asserted-by":"publisher","first-page":"2916","DOI":"10.1002\/ajmg.a.37340","volume":"167A","author":"CA Morris","year":"2015","unstructured":"Morris CA, Mervis CB, Paciorkowski AP, et al. 7q11.23 Duplication syndrome: Physical characteristics and natural history[J]. Am J Med Genet A. 2015;167A(12):2916\u201335. https:\/\/doi.org\/10.1002\/ajmg.a.37340.","journal-title":"Am J Med Genet A"},{"key":"6920_CR3","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.gde.2021.01.013","volume":"68","author":"LR Osborne","year":"2021","unstructured":"Osborne LR, Mervis CB. 7q11.23 deletion and duplication[J]. Curr Opin Genet Dev. 2021;68:41\u20138. https:\/\/doi.org\/10.1016\/j.gde.2021.01.013.","journal-title":"Curr Opin Genet Dev"},{"issue":"6","key":"6920_CR4","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1002\/pd.6340","volume":"43","author":"C Courdier","year":"2023","unstructured":"Courdier C, Boudjarane J, Malan V, et al. Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)[J]. Prenat Diagn. 2023;43(6):734\u201345. https:\/\/doi.org\/10.1002\/pd.6340.","journal-title":"Prenat Diagn"},{"issue":"2","key":"6920_CR5","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1515\/jpm-2022-0580","volume":"52","author":"H Kang","year":"2023","unstructured":"Kang H, Chen Y, Wang L, et al. Pathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysis[J]. J Perinat Med. 2023;52(2):171\u201380. https:\/\/doi.org\/10.1515\/jpm-2022-0580.","journal-title":"J Perinat Med"},{"issue":"6","key":"6920_CR6","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1002\/uog.24888","volume":"59","author":"LJ Salomon","year":"2022","unstructured":"Salomon LJ, Alfirevic Z, Berghella V, et al. ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan[J]. Ultrasound Obstet Gynecol. 2022;59(6):840\u201356. https:\/\/doi.org\/10.1002\/uog.24888.","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"1","key":"6920_CR7","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1186\/s12920-023-01548-1","volume":"16","author":"M Cai","year":"2023","unstructured":"Cai M, Guo N, Fu M, et al. Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis[J]. BMC Med Genomics. 2023;16(1):119. https:\/\/doi.org\/10.1186\/s12920-023-01548-1.","journal-title":"BMC Med Genomics"},{"issue":"1","key":"6920_CR8","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/s13023-020-01648-6","volume":"16","author":"F Qaiser","year":"2021","unstructured":"Qaiser F, Yin Y, Mervis CB, et al. Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype[J]. Orphanet J Rare Dis. 2021;16(1):6. https:\/\/doi.org\/10.1186\/s13023-020-01648-6.","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"6920_CR9","doi-asserted-by":"publisher","first-page":"1849","DOI":"10.1002\/ajmg.a.63215","volume":"191","author":"JL L\u00fchmann","year":"2023","unstructured":"L\u00fchmann JL, Schmidt G, Auber B, et al. Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders[J]. Am J Med Genet A. 2023;191(7):1849\u201357. https:\/\/doi.org\/10.1002\/ajmg.a.63215.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"6920_CR10","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1002\/ajmg.a.61937","volume":"185","author":"V Alesi","year":"2021","unstructured":"Alesi V, Loddo S, Orlando V, et al. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile[J]. Am J Med Genet A. 2021;185(1):242\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.61937.","journal-title":"Am J Med Genet A"},{"key":"6920_CR11","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1016\/j.ijcard.2018.09.032","volume":"274","author":"S Hayano","year":"2019","unstructured":"Hayano S, Okuno Y, Tsutsumi M, et al. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis[J]. Int J Cardiol. 2019;274:290\u20135. https:\/\/doi.org\/10.1016\/j.ijcard.2018.09.032.","journal-title":"Int J Cardiol"},{"issue":"4","key":"6920_CR12","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1017\/S1047951114000766","volume":"25","author":"AS Guemann","year":"2015","unstructured":"Guemann AS, Andrieux J, Petit F, et al. ELN gene triplication responsible for familial supravalvular aortic aneurysm[J]. Cardiol Young. 2015;25(4):712\u20137. https:\/\/doi.org\/10.1017\/S1047951114000766.","journal-title":"Cardiol Young"},{"issue":"1","key":"6920_CR13","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1006\/geno.2001.6674","volume":"79","author":"D Bayarsaihan","year":"2002","unstructured":"Bayarsaihan D, Dunai J, Greally JM, et al. Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region[J]. Genomics. 2002;79(1):137\u201343. https:\/\/doi.org\/10.1006\/geno.2001.6674.","journal-title":"Genomics"},{"issue":"5","key":"6920_CR14","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1136\/jmg.2009.071712","volume":"47","author":"A Antonell","year":"2010","unstructured":"Antonell A, Del Campo M, Magano LF, et al. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile[J]. J Med Genet. 2010;47(5):312\u201320. https:\/\/doi.org\/10.1136\/jmg.2009.071712.","journal-title":"J Med Genet"},{"key":"6920_CR15","doi-asserted-by":"publisher","unstructured":"Hirota H, Matsuoka R, Chen XN, et al. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23[J]. Genet Med. 2003 Jul-Aug;5(4):311\u201321. https:\/\/doi.org\/10.1097\/01.GIM.0000076975.10224.67.","DOI":"10.1097\/01.GIM.0000076975.10224.67"},{"issue":"48","key":"6920_CR16","doi-asserted-by":"publisher","first-page":"eadh2726","DOI":"10.1126\/sciadv.adh2726","volume":"9","author":"A L\u00f3pez-Tob\u00f3n","year":"2023","unstructured":"L\u00f3pez-Tob\u00f3n A, Shyti R, Villa CE, et al. GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders[J]. Sci Adv. 2023;9(48):eadh2726. https:\/\/doi.org\/10.1126\/sciadv.adh2726.","journal-title":"Sci Adv"},{"issue":"4","key":"6920_CR17","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1016\/j.cell.2018.09.014","volume":"175","author":"ATN Tebbenkamp","year":"2018","unstructured":"Tebbenkamp ATN, Varela L, Choi J, et al. The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development[J]. Cell. 2018;175(4):1088\u2013e110423. https:\/\/doi.org\/10.1016\/j.cell.2018.09.014.","journal-title":"Cell"},{"issue":"5","key":"6920_CR18","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1002\/mgg3.429","volume":"6","author":"ND Kopp","year":"2018","unstructured":"Kopp ND, Parrish PCR, Lugo M, et al. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior[J]. Mol Genet Genomic Med. 2018;6(5):749\u201365. https:\/\/doi.org\/10.1002\/mgg3.429.","journal-title":"Mol Genet Genomic Med"},{"issue":"2","key":"6920_CR19","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1002\/ccr3.48","volume":"2","author":"L Marcato","year":"2014","unstructured":"Marcato L, Turolla L, Pompilii E, et al. Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome[J]. Clin Case Rep. 2014;2(2):25\u201332. https:\/\/doi.org\/10.1002\/ccr3.48.","journal-title":"Clin Case Rep"},{"issue":"1","key":"6920_CR20","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1186\/s13023-023-02923-y","volume":"18","author":"Y Wang","year":"2023","unstructured":"Wang Y, Liu C, Hu R, et al. Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome[J]. Orphanet J Rare Dis. 2023;18(1):305. https:\/\/doi.org\/10.1186\/s13023-023-02923-y.","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"6920_CR21","doi-asserted-by":"publisher","first-page":"e390","DOI":"10.1097\/DBP.0000000000001068","volume":"43","author":"BP Klein-Tasman","year":"2022","unstructured":"Klein-Tasman BP, Yund BD, Mervis CB. The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression[J]. J Dev Behav Pediatr. 2022;43(6):e390\u20138. https:\/\/doi.org\/10.1097\/DBP.0000000000001068.","journal-title":"J Dev Behav Pediatr"},{"issue":"1","key":"6920_CR22","doi-asserted-by":"publisher","first-page":"8246","DOI":"10.1038\/s41598-021-87632-x","volume":"11","author":"L Chen","year":"2021","unstructured":"Chen L, Wang W, Cai W, et al. Spatiotemporal 7q11.23 protein network analysis implicates the role of DNA repair pathway during human brain development[J]. Sci Rep. 2021;11(1):8246. https:\/\/doi.org\/10.1038\/s41598-021-87632-x.","journal-title":"Sci Rep"},{"issue":"43","key":"6920_CR23","doi-asserted-by":"publisher","first-page":"e34852","DOI":"10.1097\/MD.0000000000034852","volume":"102","author":"X Lv","year":"2023","unstructured":"Lv X, Yang X, Li L, et al. Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review[J]. Med (Baltim). 2023;102(43):e34852. https:\/\/doi.org\/10.1097\/MD.0000000000034852.","journal-title":"Med (Baltim)"},{"key":"6920_CR24","doi-asserted-by":"publisher","first-page":"1141665","DOI":"10.3389\/fped.2023.1141665","volume":"11","author":"Y Wang","year":"2023","unstructured":"Wang Y, Liu C, Hu R, et al. Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review[J]. Front Pediatr. 2023;11:1141665. https:\/\/doi.org\/10.3389\/fped.2023.1141665.","journal-title":"Front Pediatr"},{"issue":"1","key":"6920_CR25","doi-asserted-by":"publisher","first-page":"2271","DOI":"10.1038\/s41598-024-52831-9","volume":"14","author":"J Zhuang","year":"2024","unstructured":"Zhuang J, Zhang N, Chen Y, et al. Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study[J]. Sci Rep. 2024;14(1):2271. https:\/\/doi.org\/10.1038\/s41598-024-52831-9.","journal-title":"Sci Rep"},{"issue":"4","key":"6920_CR26","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1080\/15513815.2019.1651802","volume":"39","author":"Y Dang","year":"2020","unstructured":"Dang Y, Wan S, Zheng Y, et al. The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication[J]. Fetal Pediatr Pathol. 2020;39(4):269\u201376. https:\/\/doi.org\/10.1080\/15513815.2019.1651802.","journal-title":"Fetal Pediatr Pathol"},{"issue":"3","key":"6920_CR27","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1007\/s40477-021-00638-z","volume":"25","author":"DM Sherer","year":"2022","unstructured":"Sherer DM, Hsieh V, Granderson F, et al. Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome[J]. J Ultrasound. 2022;25(3):645\u20137. https:\/\/doi.org\/10.1007\/s40477-021-00638-z.","journal-title":"J Ultrasound"}],"container-title":["BMC Pregnancy and Childbirth"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12884-024-06920-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12884-024-06920-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12884-024-06920-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T11:03:42Z","timestamp":1730891022000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpregnancychildbirth.biomedcentral.com\/articles\/10.1186\/s12884-024-06920-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,6]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["6920"],"URL":"https:\/\/doi.org\/10.1186\/s12884-024-06920-2","relation":{},"ISSN":["1471-2393"],"issn-type":[{"value":"1471-2393","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,6]]},"assertion":[{"value":"13 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved (No. LGFYYXLLQ-2020-009) by the Ethics Committee of Longgang District Maternity &Child Heathcare Hospital of Shenzhen City. All patients provided written informed consent for the use of their biological samples for research purposes, in accordance with Institutional Review Boards requirements and the Helsinki\u2019s declaration.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent for publication has been obtained from the patient and\/or their legal guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"727"}}