{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:26:50Z","timestamp":1771028810209,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,9,5]],"date-time":"2016-09-05T00:00:00Z","timestamp":1473033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81300495"],"award-info":[{"award-number":["81300495"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81541064"],"award-info":[{"award-number":["81541064"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81500244"],"award-info":[{"award-number":["81500244"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>Individuals carrying balanced translocations have a high risk of birth defects, recurrent spontaneous abortions and infertility. Thus, the detection and characterization of balanced translocations is important to reveal the genetic background of the carriers and to provide proper genetic counseling. Next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>), which has great advantages over other methods such as karyotyping and fluorescence <jats:italic>in situ<\/jats:italic> hybridization (<jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content>), has been used to detect disease\u2010associated breakpoints. Herein, to evaluate the application of this technology to detect balanced translocations in the clinic, we performed a parental study for prenatal cases with unbalanced translocations. Eight candidate families with potential balanced translocations were investigated using two strategies in parallel, low\u2010coverage whole\u2010genome sequencing (<jats:styled-content style=\"fixed-case\">WGS<\/jats:styled-content>) followed\u2010up by Sanger sequencing and G\u2010banding karyotype coupled with <jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content>. G\u2010banding analysis revealed three balanced translocations, and <jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content> detected two cryptic submicroscopic balanced translocations. Consistently, <jats:styled-content style=\"fixed-case\">WGS<\/jats:styled-content> detected five balanced translocations and mapped all the breakpoints by Sanger sequencing. Analysis of the breakpoints revealed that six genes were disrupted in the four apparently healthy carriers. In summary, our result suggested low\u2010coverage <jats:styled-content style=\"fixed-case\">WGS<\/jats:styled-content> can detect balanced translocations reliably and can map breakpoints precisely compared with conventional procedures. <jats:styled-content style=\"fixed-case\">WGS<\/jats:styled-content> may replace cytogenetic methods in the diagnosis of balanced translocation carriers in the clinic.<\/jats:p>","DOI":"10.1111\/cge.12844","type":"journal-article","created":{"date-parts":[[2016,8,5]],"date-time":"2016-08-05T07:46:06Z","timestamp":1470383166000},"page":"605-610","source":"Crossref","is-referenced-by-count":29,"title":["Clinical application of whole\u2010genome low\u2010coverage next\u2010generation sequencing to detect and characterize balanced chromosomal translocations"],"prefix":"10.1111","volume":"91","author":[{"given":"D.","family":"Liang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X.","family":"Ji","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Hu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University  Nanjing 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