{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T09:01:37Z","timestamp":1764061297234,"version":"3.40.5"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T00:00:00Z","timestamp":1741132800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control","award":["2024SSY06201"],"award-info":[{"award-number":["2024SSY06201"]}]},{"name":"Jiangxi Provincial Clinical Research Center for Birth Defects","award":["20223BCG74002"],"award-info":[{"award-number":["20223BCG74002"]}]},{"name":"Provincial Health Commission Program of Jiangxi","award":["202410426"],"award-info":[{"award-number":["202410426"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This study was aimed to identify a rare complex rearrangement and assist prenatal counseling.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Method<\/jats:title>\n                  <jats:p>Mate-pair sequencing (MPseq) combined with karyotypes, copy number variants sequencing and whole exome sequencing was used to provide accurate chromosome breakpoints and assist prenatal diagnosis for a mentally retarded pregnant woman.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Result<\/jats:title>\n                  <jats:p>MPseq indicated a complex rearrangement involved 25 breakpoints and fusions, disrupting 6 genes. Among which, ZMIZ1 was associated with neurodevelopmental disorders with dysmorphic facies and distal skeletal abnormalities, which was consistent with the phenotype of pregnant women.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>MPseq was a cost-effective and accurate method that could be used as a complementary tool for human genetic diagnosis and prenatal counseling.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/hmg\/ddaf012","type":"journal-article","created":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T13:27:29Z","timestamp":1740662849000},"page":"864-869","source":"Crossref","is-referenced-by-count":1,"title":["Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8939-3004","authenticated-orcid":false,"given":"Lu","family":"Wan","sequence":"first","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8096-2398","authenticated-orcid":false,"given":"Zeng","family":"Baitao","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tan","family":"Yuxin","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Affiliated Hospital of Nanchang University , #461 Bayi Road, Donghu District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Zhongfa","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhou","family":"Jihui","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huang","family":"Ning","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Bicheng","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huang","family":"Shuhui","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liu","family":"Yanqiu","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Huizhen","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital , #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"2025050702470618600_ref1","first-page":"57","article-title":"Complex chromosomal rearrangements","volume":"18","author":"Patsalis","year":"2007","journal-title":"Genet Couns"},{"key":"2025050702470618600_ref2","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1007\/s00439-023-02591-9","article-title":"Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm","volume":"142","author":"Sugimoto","year":"2023","journal-title":"Hum Genet"},{"key":"2025050702470618600_ref3","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1136\/jmedgenet-2022-108553","article-title":"Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping","volume":"60","author":"Zhang","year":"2023","journal-title":"J Med 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