{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:19:47Z","timestamp":1777727987086,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:p>The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel\u2013Giedion syndrome or intellectual developmental disorder, autosomal dominant 29. We report the prenatal diagnosis and genetic counseling of a patient with a maternally inherited 18q12.3 microdeletion. In this family, the mother and son carried the same microdeletion. Chromosomal microdeletions and microduplications are difficult to detect using conventional cytogenetics, whereas the combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis, and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions\/microduplications.<\/jats:p>","DOI":"10.1177\/03000605221121955","type":"journal-article","created":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T08:21:40Z","timestamp":1663057300000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1"],"prefix":"10.1177","volume":"50","author":[{"given":"Yaqing","family":"Zhou","sequence":"first","affiliation":[{"name":"Reproductive Center Laboratory, Ninghai County Maternal and Child Health Hospital, Ningbo, Zhejiang, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7049-418X","authenticated-orcid":false,"given":"Yan","family":"Quan","sequence":"additional","affiliation":[{"name":"Department of Maternal Health Care, Shiyan Maternal and Child Health Hospital, Shiyan, Hubei, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yijun","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Huanggang Central Hospital, Huanggang, Hubei, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1999-8419","authenticated-orcid":false,"given":"Yinxing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Huangshi Central Hospital, Affiliated Hospital of Hubei Polytechnic University, Edong Healthcare Group, Huangshi, Hubei, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,9,13]]},"reference":[{"key":"bibr1-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-020-00839-y"},{"key":"bibr2-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61630"},{"key":"bibr3-03000605221121955","unstructured":"International System of Cytogenomic Nomenclature (ISCN 2020)."},{"key":"bibr4-03000605221121955","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.593446"},{"key":"bibr5-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2017.10.027"},{"key":"bibr6-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-017-0877-5"},{"key":"bibr7-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3092"},{"key":"bibr8-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084582"},{"key":"bibr9-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009441"},{"key":"bibr10-03000605221121955","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2020.05.019"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605221121955","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605221121955","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605221121955","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:50:59Z","timestamp":1777459859000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605221121955"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1177\/03000605221121955"],"URL":"https:\/\/doi.org\/10.1177\/03000605221121955","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9]]},"article-number":"03000605221121955"}}