{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T12:42:00Z","timestamp":1772800920917,"version":"3.50.1"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T00:00:00Z","timestamp":1624060800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T00:00:00Z","timestamp":1624060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22\u00a0weeks of gestation. The NIPT results revealed a 5.8\u00a0Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided\u00a0amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7\u00a0Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01013-x","type":"journal-article","created":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T20:02:42Z","timestamp":1624132962000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited"],"prefix":"10.1186","volume":"14","author":[{"given":"Chunyan","family":"Jin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiping","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0610-7250","authenticated-orcid":false,"given":"Tianhui","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,19]]},"reference":[{"issue":"6","key":"1013_CR1","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1016\/j.tjog.2019.09.024","volume":"58","author":"CP Chen","year":"2019","unstructured":"Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Chuang TY, et al. Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects. Taiwan J Obstet Gynecol. 2019;58(6):869\u201371.","journal-title":"Taiwan J Obstet Gynecol"},{"key":"1013_CR2","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1186\/s13039-018-0410-4","volume":"11","author":"F Schnabel","year":"2018","unstructured":"Schnabel F, Smogavec M, Funke R, Pauli S, Burfeind P, Bartels I. Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22. Mol Cytogenet. 2018;11:62.","journal-title":"Mol Cytogenet"},{"issue":"9","key":"1013_CR3","doi-asserted-by":"publisher","first-page":"17","DOI":"10.7748\/ncyp.28.9.17.s19","volume":"28","author":"D Crawford","year":"2016","unstructured":"Crawford D, Dearmun A. Down\u2019s syndrome. 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