{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:26:43Z","timestamp":1771028803562,"version":"3.50.1"},"reference-count":11,"publisher":"S. Karger AG","issue":"7","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Chromosomal abnormalities are a common cause of spontaneous abortions, but conventional detection methods (karyotype, FISH, and chromosomal microarray [CMA]) have limitations, and many cryptic balanced chromosomal rearrangements are difficult to detect. We describe a couple who experienced a missed abortion, studied by CMA. CMA of the abortion tissue detected a 1.62-Mb duplication at 14q11.2 and a 5.09-Mb deletion at 21q11.2q21.1, while the couple seemed to have a normal karyotype. Combining the results of CMA, whole-genome sequencing (WGS) breakpoint analysis, Sanger sequencing, and FISH, we found that the father was a 46,XY,t(14;21)(q11.2;q21.1) balanced translocation carrier. Our results indicate that WGS is an efficient and accurate approach to map breakpoints of cryptic reciprocal balanced translocations undetectable by standard karyotype. <\/jats:p>","DOI":"10.1159\/000528604","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T22:00:36Z","timestamp":1678399236000},"page":"386-390","source":"Crossref","is-referenced-by-count":1,"title":["Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing"],"prefix":"10.1159","volume":"162","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8186-2555","authenticated-orcid":false,"given":"Juan","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gui-Zhen","family":"Lyu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor Wei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Zhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0169935"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deaa269"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.10.003"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0930-2"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01313"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.13452"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ogc.2017.10.007"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12844"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050453"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020141"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/cgr\/article-pdf\/162\/7\/386\/3936613\/000528604.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/cgr\/article-pdf\/162\/7\/386\/3936613\/000528604.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:04:38Z","timestamp":1745420678000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000528604"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":11,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,5,30]]},"published-print":{"date-parts":[[2023,5,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000528604","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}