{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:26:57Z","timestamp":1760909217954,"version":"3.41.2"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T00:00:00Z","timestamp":1584403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Finance Department Health Special Project of Jilin Province, China","award":["JLSCZD2019-022"],"award-info":[{"award-number":["JLSCZD2019-022"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Terminal duplication on chromosome 15q is a rare chromosomal variation. Affected individuals show similar features such as growth dysplasia or the development of frontal bossing, body deformities, facial abnormalities, and genitourinary or cardiovascular disorders. However, it is not yet clear whether such 15q repeats lead to identifiable patterns of clinical abnormalities. Therefore, the purpose of this study was to analyze the prenatal diagnostic results and clinical manifestations of a fetus with 15q duplication and to summarize the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The case was a fetus at 28\u00a0weeks of gestation. The risk of Down syndrome from second\u2010trimester screening was 1\/140. Prenatal ultrasound and amniocentesis were performed, and chromosomal microarray analysis (CMA) was used for genetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The fetus had abnormal clinical features, including intracardiac echogenic focus in the left ventricle, an aberrant right subclavian artery, and growth delay. The fetal chromosomal karyotype was 46,XX,15q?,12q?,21pstk+, and CMA revealed a 10.163\u00a0Mb duplication at 15q24.3\u2010q25.3. The couple chose to terminate the pregnancy after careful consideration.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The combination and rational application of cytogenetics technology and molecular genetics technology such as CMA will open up the field of clinical application and provide useful genetic counseling for parents of fetuses carrying such chromosomal duplications.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23288","type":"journal-article","created":{"date-parts":[[2020,3,18]],"date-time":"2020-03-18T05:04:16Z","timestamp":1584507856000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal diagnosis of a de novo tetrasomy 15q24.3\u201025.3: Case report and literature review"],"prefix":"10.1002","volume":"34","author":[{"given":"Xiaonan","family":"Hu","sequence":"first","affiliation":[{"name":"Reproductive Medicine &amp; Prenatal Diagnosis Center First Hospital of Jilin University Changchun China"},{"name":"Jilin Engineering Research Center for Reproductive Medicine and Genetics Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leilei","family":"Li","sequence":"additional","affiliation":[{"name":"Reproductive Medicine &amp; Prenatal Diagnosis Center First Hospital of Jilin University Changchun China"},{"name":"Jilin Engineering Research Center for Reproductive Medicine and Genetics Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongguo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Reproductive Medicine &amp; Prenatal Diagnosis Center First Hospital of Jilin University Changchun China"},{"name":"Jilin Engineering Research Center for Reproductive Medicine and Genetics Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuming","family":"Hu","sequence":"additional","affiliation":[{"name":"Reproductive Medicine &amp; Prenatal Diagnosis Center First Hospital of Jilin University Changchun China"},{"name":"Jilin Engineering Research Center for Reproductive Medicine and Genetics Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linlin","family":"Li","sequence":"additional","affiliation":[{"name":"Reproductive Medicine &amp; Prenatal Diagnosis Center First Hospital of Jilin University Changchun China"},{"name":"Jilin Engineering Research Center for Reproductive Medicine and Genetics Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meiling","family":"Sun","sequence":"additional","affiliation":[{"name":"Reproductive Medicine &amp; Prenatal Diagnosis Center First Hospital of Jilin University Changchun China"},{"name":"Jilin Engineering Research Center for Reproductive Medicine and Genetics Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3386-7765","authenticated-orcid":false,"given":"Ruizhi","family":"Liu","sequence":"additional","affiliation":[{"name":"Reproductive Medicine &amp; Prenatal Diagnosis Center First Hospital of Jilin University Changchun China"},{"name":"Jilin Engineering Research Center for Reproductive Medicine and Genetics Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.287"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04601"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-018-0365-5"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S159377"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<391::AID-AJMG4>3.0.CO;2-O"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2017.06.003"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2011.54.6.267"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/EC-17-0158"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20617"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30112"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30921"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33750"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2002.01022.x"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)60364-4"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.7863\/ultra.32.7.1215"},{"key":"e_1_2_8_17_1","first-page":"138","volume-title":"ISCN 2013: an international system for human cytogenetic nomenclature","author":"Shaffer L","year":"2013"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-5-13"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.04.011"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01401.x"},{"issue":"5","key":"e_1_2_8_21_1","first-page":"877","article-title":"Tetrasomy 15q: two marker chromosomes with no detectable alpha\u2010satellite DNA","volume":"54","author":"Blennow E","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.630113.x"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30745"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000106438"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.3343\/kjlm.2010.30.3.318"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/898706"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000307"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.03.005"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1155103"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(09)60343-0"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000182876.57766.2d"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35428"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(03)00075-1"},{"issue":"12","key":"e_1_2_8_34_1","first-page":"90","article-title":"Application of chromosome microarray analysis technology in prenatal diagnosis","volume":"39","author":"Zhang W","year":"2018","journal-title":"Academic Journal of Chinese PLA Medical School"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-014-0082-7"},{"issue":"7","key":"e_1_2_8_36_1","doi-asserted-by":"crossref","first-page":"947","DOI":"10.5858\/2006-130-947-CHSRAR","article-title":"Cytogenetic heteromorphisms: survey results and reporting practices of giemsa\u2010band regions that we have pondered for years","volume":"130","author":"Brothman AR","year":"2006","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2018.01.005"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.23288","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23288","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.23288","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23288","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T04:31:47Z","timestamp":1693888307000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.23288"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,17]]},"references-count":36,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/jcla.23288"],"URL":"https:\/\/doi.org\/10.1002\/jcla.23288","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"type":"print","value":"0887-8013"},{"type":"electronic","value":"1098-2825"}],"subject":[],"published":{"date-parts":[[2020,3,17]]},"assertion":[{"value":"2019-12-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e23288"}}