{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:35:55Z","timestamp":1787726155962,"version":"build-2784847793"},"reference-count":17,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2016,11,29]],"date-time":"2016-11-29T00:00:00Z","timestamp":1480377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis. Detailed pregnancy outcome and pediatric follow\u2010up were documented.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The genotypic and phenotypic features of the reported cases were discussed. 10q22q23 duplications are associated with an unpredictable and variable phenotypic outcome. Despite there was no phenotype found to be shared by 50% of the duplication cases, congenital heart defects, hypotelorism, and developmental delays including speech and motor delay seem to be more common.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The phenotype of 10q22q23 duplication is highly variable prenatally and postnatally. Identification of additional affected individuals with similar duplications is needed to provide further insights into the pathogenesis of this microduplication. \u00a9 2016 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4959","type":"journal-article","created":{"date-parts":[[2016,11,8]],"date-time":"2016-11-08T20:43:27Z","timestamp":1478637807000},"page":"1211-1216","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction"],"prefix":"10.1002","volume":"36","author":[{"given":"Grace Wing Shan","family":"Kong","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The Chinese University of Hong Kong  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Chinese University of Hong Kong  Hong Kong"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Chinese University of Hong Kong  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwun Yue","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Chinese University of Hong Kong  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber Nolen","family":"Pursley","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill Anne","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Signature Genomic Laboratories PerkinElmer, Inc.  Spokane WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice G.","family":"Edwards","sequence":"additional","affiliation":[{"name":"Genetic Counseling Program University of South Carolina  Columbia SC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiu Man","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Chinese University of Hong Kong  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tak Yeung","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Chinese University of Hong Kong  Hong Kong"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"},{"name":"Hong Kong Branches of Chinese National Engineering Research Centers\u2013Center for Assisted Reproductive Technology and Reproductive Genetics The Chinese University of Hong Kong  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Chinese University of Hong Kong  Hong Kong"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"},{"name":"Hong Kong Branches of Chinese National Engineering Research Centers\u2013Center for Assisted Reproductive Technology and Reproductive Genetics The Chinese University of Hong Kong  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018598"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.042390499"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.978-a"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.909"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.211"},{"key":"e_1_2_6_7_1","first-page":"161","article-title":"Duplication 10q22.1\u2010q25.1 due to intrachromosomal insertion: a second case","volume":"41","author":"Goss PW","year":"1998","journal-title":"Ann Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30307"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000094224"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.09.007"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.77"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181c9c8f8"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.102"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37347"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1572"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.e71"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.063412"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055202"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4959","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4959","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.4959","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T10:20:29Z","timestamp":1696328429000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.4959"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,29]]},"references-count":17,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/pd.4959"],"URL":"https:\/\/doi.org\/10.1002\/pd.4959","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,29]]}}}