{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T02:36:17Z","timestamp":1773455777496,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T00:00:00Z","timestamp":1651017600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Haidian District Maternal and Child Health Care Hospital\u2019s Funds for Maternal and Child Health Improvement and Research","award":["2017-04"],"award-info":[{"award-number":["2017-04"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Disease Markers"],"published-print":{"date-parts":[[2022,4,27]]},"abstract":"<jats:p>Copy number variations (CNVs) at the chromosomal 1q21.1 region represent a group of hot-spot recurrent rearrangements in human genome, which have been detected in hundreds of patients with variable clinical manifestations. Yet, report of such CNVs in prenatal scenario was relatively scattered. In this study, 17 prenatal cases involving the 1q21.1 microdeletion or duplication were recruited. The clinical survey and imaging examination were performed; and genetic detection with karyotyping and CNV analysis using chromosomal microarray (CMA) or CNVseq were subsequently carried out. These cases were all positive with 1q21.1 CNV, yet presented with exceedingly various clinical and utrasonographic indications. Among them, 12 pregnancies carried 1q21.1 deletions, while the other 5 carried 1q21.1 duplications, all of which were within the previously defined breaking point (BP) regions. According to the verification results, 9 CNVs were de novo, 7 were familial, and the other 1 was not certain. We summarized the clinical information of these cases, and the size and distribution of CNVs, and attempted to analyze the association between these two aspects. The findings in our study may provide important basis for the prenatal diagnosis and genetic counseling on such conditions in the future.<\/jats:p>","DOI":"10.1155\/2022\/5487452","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T20:20:17Z","timestamp":1651090817000},"page":"1-9","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation"],"prefix":"10.1155","volume":"2022","author":[{"given":"Xiaohui","family":"Wen","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9398-8278","authenticated-orcid":true,"given":"Huanxia","family":"Xing","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keyan","family":"Qi","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Hangzhou Women\u2019s Hospital, Hangzhou, Zhejiang, China"},{"name":"Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojun","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianjiang","family":"Zhu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenqi","family":"Chen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Limin","family":"Cui","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9957-3372","authenticated-orcid":true,"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5282-5790","authenticated-orcid":true,"given":"Hong","family":"Qi","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00577"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.279"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805384"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810377658"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1038\/ng.909"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1200395"},{"key":"7","volume-title":"1q21.1 Recurrent Microdeletion. 2011 Feb 24 [Updated 2015 Nov 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Gene Reviews\u00ae [Internet]","author":"C. R. Haldeman-Englert","year":"2022"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000327"},{"issue":"1","key":"9","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/s41398-021-01213-0","article-title":"1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans","volume":"11","author":"I. E. Sonderby","year":"2021","journal-title":"Transl Psychiatry"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.6"},{"key":"11","volume-title":"Thrombocytopenia Absent Radius Syndrome. 2009 Dec 8 [Updated 2016 Dec 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]","author":"H. V. Toriello","year":"2022"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1086\/510919"},{"issue":"4","key":"13","doi-asserted-by":"crossref","DOI":"10.1038\/ng.1083","article-title":"Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome","volume":"44","author":"C. A. Albers","year":"2012","journal-title":"Nat Genet"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.07.008"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1038\/npjgenmed.2016.31"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103366"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-017-4518-2"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.2948"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1002\/uog.18928"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00275"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1002\/9781119061199"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"23","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen), Genetics in medicine: official journal of the American College of Medical Genetics","author":"E. R. Riggs","year":"2019"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14849"},{"issue":"9","key":"25","first-page":"940","article-title":"Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach, genetics in medicine: official journal of the American College of Medical","volume":"18","author":"Z. Dong","year":"2016","journal-title":"Genetics"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-01131-6"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.742325"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2129"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1038\/ng1862"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1086\/521338"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1186\/1756-0500-6-376"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2020.01.024"},{"key":"34","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38247"},{"key":"35","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-017-0380-x"},{"key":"36","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2018.08.024"}],"container-title":["Disease Markers"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/dm\/2022\/5487452.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/dm\/2022\/5487452.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/dm\/2022\/5487452.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T07:57:30Z","timestamp":1653033450000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/dm\/2022\/5487452\/"}},"subtitle":[],"editor":[{"given":"Nashwa","family":"El-Khazragy","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,4,27]]},"references-count":36,"alternative-id":["5487452","5487452"],"URL":"https:\/\/doi.org\/10.1155\/2022\/5487452","relation":{},"ISSN":["1875-8630","0278-0240"],"issn-type":[{"value":"1875-8630","type":"electronic"},{"value":"0278-0240","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4,27]]}}}