{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:25:03Z","timestamp":1745468703814,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T00:00:00Z","timestamp":1694995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T00:00:00Z","timestamp":1694995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Chromosomal aberrations due to complex chromosomal rearrangements (CCRs) can cause abnormal phenotypes if accompanied by microdeletions or microduplications near the breakpoint, or gene breaks. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; We report a prenatal diagnostic case of 2q14.3-q22.1 deletion with ultrasound suggestive of absent nasal bone accompanied by CCRs involving 6 chromosomes. Cytogenetic analysis revealed a karyotype of 46,XY,der(1)t(1;2)(p13.3;p11.2),der(2)t(1;2)inv(2)(q12q14.2)del(2)(q14.3q22.1),t(12;16)(q21.2;q12.1),t(13;21)(q32;q22.1). Chromosomal microarray analysis identified a 14.90 Mb deletion on 2q14.3q22.1. The copy number variant was de novo, as determined by karyotype analysis of the parents\u2019 peripheral blood G-banding. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; The region contains haploinsufficient genes that can cause different phenotypes, mainly associated with neurodevelopmental and autism spectrum disorders. However, the genotype-phenotype correlation is limited in prenatal evaluation. Therefore, the combined use of multiple diagnostic techniques has an important role in the assessment of CCRs and genetic counseling. <\/jats:p>","DOI":"10.1159\/000531769","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:03:05Z","timestamp":1697058185000},"page":"71-76","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement"],"prefix":"10.1159","volume":"15","author":[{"given":"Yong","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuanning","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yamei","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingxi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,9,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds166"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007858"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36357"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00172-09"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-021-01316-z"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2012.02.012"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61592"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmr010"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.14309\/ctg.0000000000000166"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2022.06.003"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-017-1042-z"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/1\/71\/4167588\/000531769.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/1\/71\/4167588\/000531769.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:39:00Z","timestamp":1745422740000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000531769"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,18]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,2,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000531769","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2023,9,18]]}}}