{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:30:59Z","timestamp":1777523459138,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T00:00:00Z","timestamp":1599696000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>\n                    Robin sequence (RS) has been reported in association with\n                    <jats:bold>single gene disorders<\/jats:bold>\n                    and chromosomal abnormalities; however, it has not previously been described in connection with chromosome 1q21 microduplication. We present the first known case of a neonate diagnosed with chromosome 1q21.1 microduplication syndrome and RS requiring surgical airway intervention. This case demonstrates\n                    <jats:bold>the value<\/jats:bold>\n                    of genetic testing in cases of RS presenting with other congenital anomalies.\n                  <\/jats:p>","DOI":"10.1177\/1055665620954751","type":"journal-article","created":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T11:46:06Z","timestamp":1599738366000},"page":"514-517","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications"],"prefix":"10.1177","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7168-0996","authenticated-orcid":false,"given":"Lauren K.","family":"Salinero","sequence":"first","affiliation":[{"name":"Division of Plastic and Reconstructive Surgery, Children\u2019s National Medical Center, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natasha","family":"Shur","sequence":"additional","affiliation":[{"name":"Division of Genetics, Children\u2019s National Medical Center, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert K.","family":"Oh","sequence":"additional","affiliation":[{"name":"Division of Plastic and Reconstructive Surgery, Children\u2019s National Medical Center, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,9,10]]},"reference":[{"key":"e_1_3_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.78"},{"key":"e_1_3_2_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1756-0500-6-376"},{"key":"e_1_3_2_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2016.0796"},{"issue":"4","key":"e_1_3_2_5_1","first-page":"e1","article-title":"Maternal treatment with opioid analgesics and risk for birth defects","volume":"20","author":"Broussard CS","year":"2011","unstructured":"Broussard CS, Rasmussen SA, Reefhuis J, Friedman JM, Jann MW, Riehle-Colarusso T, Honein MA, National Birth Defects Prevention Study. Maternal treatment with opioid analgesics and risk for birth defects. Am J Obstet Gynecol. 2011;20(4):314.e1\u2013e11.","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_3_2_6_1","doi-asserted-by":"publisher","DOI":"10.4103\/2231-0746.186134"},{"key":"e_1_3_2_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500106"},{"key":"e_1_3_2_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.129"},{"key":"e_1_3_2_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-2615"},{"key":"e_1_3_2_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/00048674.2010.506637"},{"key":"e_1_3_2_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37538"},{"key":"e_1_3_2_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-4256"},{"key":"e_1_3_2_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.09.021"},{"key":"e_1_3_2_14_1","unstructured":"Johns Hopkins University. Online Mendelian Inheritance in Man. OMIM entry 6009897. Accessed July 6 2018. www.ncbi.nlm.nih.gov\/omim"},{"key":"e_1_3_2_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-018-3111-4"},{"key":"e_1_3_2_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805384"},{"issue":"7","key":"e_1_3_2_17_1","first-page":"1513","article-title":"Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls","volume":"21","author":"Soemedi R","year":"2012","unstructured":"Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Gene Med. 2012;21(7):1513\u20131520.","journal-title":"Gene Med"},{"key":"e_1_3_2_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.08.004"},{"key":"e_1_3_2_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<301::AID-AJMG5>3.0.CO;2-J"},{"key":"e_1_3_2_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.136"},{"key":"e_1_3_2_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000449115"},{"key":"e_1_3_2_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0000000000004581"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665620954751","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1055665620954751","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665620954751","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:21:00Z","timestamp":1777393260000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1055665620954751"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,10]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1177\/1055665620954751"],"URL":"https:\/\/doi.org\/10.1177\/1055665620954751","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,10]]}}}