{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:18:09Z","timestamp":1784546289103,"version":"3.55.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Shenzhen Science and Technology Program","award":["JCYJ20240813115015019"],"award-info":[{"award-number":["JCYJ20240813115015019"]}]},{"name":"Guangdong Medical Science and Technology Research Fund","award":["B2025261"],"award-info":[{"award-number":["B2025261"]}]},{"name":"Guangdong Medical Science and Technology Research Fund","award":["B2025261"],"award-info":[{"award-number":["B2025261"]}]},{"name":"Guangdong Medical Science and Technology Research Fund","award":["B2025261"],"award-info":[{"award-number":["B2025261"]}]},{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"crossref","award":["SZSM202311005"],"award-info":[{"award-number":["SZSM202311005"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"crossref","award":["SZSM202311005"],"award-info":[{"award-number":["SZSM202311005"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"crossref","award":["SZSM202311005"],"award-info":[{"award-number":["SZSM202311005"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"crossref","award":["SZSM202311005"],"award-info":[{"award-number":["SZSM202311005"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Shenzhen Key Laboratory of Maternal and Child Health and Diseases","award":["ZDSYS20230626091559006"],"award-info":[{"award-number":["ZDSYS20230626091559006"]}]},{"name":"Shenzhen Key Laboratory of Maternal and Child Health and Diseases","award":["ZDSYS20230626091559006"],"award-info":[{"award-number":["ZDSYS20230626091559006"]}]},{"name":"Shenzhen Key Laboratory of Maternal and Child Health and Diseases","award":["ZDSYS20230626091559006"],"award-info":[{"award-number":["ZDSYS20230626091559006"]}]},{"name":"Shenzhen Key Laboratory of Maternal and Child Health and Diseases","award":["ZDSYS20230626091559006"],"award-info":[{"award-number":["ZDSYS20230626091559006"]}]},{"DOI":"10.13039\/501100010877","name":"Shenzhen Science and Technology Innovation Committee","doi-asserted-by":"crossref","award":["JCYJ20220530155202006"],"award-info":[{"award-number":["JCYJ20220530155202006"]}],"id":[{"id":"10.13039\/501100010877","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"DOI":"10.1186\/s13039-025-00729-0","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T12:46:44Z","timestamp":1759236404000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Li-Jun","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Lan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Yi","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"729_CR1","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1038\/190372a0","volume":"190","author":"MF Lyon","year":"1961","unstructured":"Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature. 1961;190:372\u20133. https:\/\/doi.org\/10.1038\/190372a0.","journal-title":"Nature"},{"key":"729_CR2","doi-asserted-by":"publisher","unstructured":"Furlan G, Galupa R. Mechanisms of choice in X-Chromosome inactivation. Cells. 2022;11. https:\/\/doi.org\/10.3390\/cells11030535.","DOI":"10.3390\/cells11030535"},{"key":"729_CR3","doi-asserted-by":"publisher","first-page":"3271","DOI":"10.1002\/ajmg.a.37888","volume":"170","author":"A Di-Battista","year":"2016","unstructured":"Di-Battista A, Meloni VA, da Silva MD, Moys\u00e9s\u2010Oliveira M, Melaragno MI. Unusual X\u2010chromosome inactivation pattern in patients with Xp11.23\u2010p11.22 duplication: report and review. Am J Med Genet Part A. 2016;170:3271\u20135. https:\/\/doi.org\/10.1002\/ajmg.a.37888.","journal-title":"Am J Med Genet Part A"},{"key":"729_CR4","doi-asserted-by":"publisher","unstructured":"Juchniewicz P, et al. X-chromosome inactivation patterns depend on age and tissue but not conception method in humans. Chromosome Res. 2023;31. https:\/\/doi.org\/10.1007\/s10577-023-09717-9.","DOI":"10.1007\/s10577-023-09717-9"},{"key":"729_CR5","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1038\/nature24265","volume":"550","author":"T Tukiainen","year":"2017","unstructured":"Tukiainen T, et al. Landscape of X chromosome inactivation across human tissues. Nature. 2017;550:244\u20138. https:\/\/doi.org\/10.1038\/nature24265.","journal-title":"Nature"},{"key":"729_CR6","doi-asserted-by":"publisher","unstructured":"Santos-Rebou\u00e7as CB, et al. Skewed X-Chromosome inactivation and compensatory upregulation of escape genes precludes major clinical symptoms in a female with a large Xq deletion. Front Genet. 2020;11. https:\/\/doi.org\/10.3389\/fgene.2020.00101.","DOI":"10.3389\/fgene.2020.00101"},{"key":"729_CR7","doi-asserted-by":"publisher","unstructured":"Zhao Y, et al. X chromosome inactivation pattern and pregnancy outcome of female carriers of pathogenic heterozygous X-Linked deletions. Front Genet. 2021;12. https:\/\/doi.org\/10.3389\/fgene.2021.782629.","DOI":"10.3389\/fgene.2021.782629"},{"key":"729_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2023.102096","author":"SA Khan","year":"2023","unstructured":"Khan SA, Theunissen TW. Modeling X-chromosome inactivation and reactivation during human development. Curr Opin Genet Dev. 2023. https:\/\/doi.org\/10.1016\/j.gde.2023.102096.","journal-title":"Curr Opin Genet Dev"},{"key":"729_CR9","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1159\/000524342","volume":"162","author":"EA Fonova","year":"2022","unstructured":"Fonova EA, et al. Skewed X-Chromosome inactivation as a possible marker of X-Linked CNV in women with pregnancy loss. Cytogenet Genome Res. 2022;162:97\u2013108. https:\/\/doi.org\/10.1159\/000524342.","journal-title":"Cytogenet Genome Res"},{"key":"729_CR10","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1016\/j.fertnstert.2018.04.017","volume":"110","author":"CL Miranda-Furtado","year":"2018","unstructured":"Miranda-Furtado CL, et al. Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency. Fertil Steril. 2018;110:476\u2013e485471. https:\/\/doi.org\/10.1016\/j.fertnstert.2018.04.017.","journal-title":"Fertil Steril"}],"container-title":["Molecular Cytogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-025-00729-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13039-025-00729-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-025-00729-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T01:04:39Z","timestamp":1759280679000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/s13039-025-00729-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,30]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["729"],"URL":"https:\/\/doi.org\/10.1186\/s13039-025-00729-0","relation":{},"ISSN":["1755-8166"],"issn-type":[{"value":"1755-8166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,30]]},"assertion":[{"value":"31 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of the Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University (SFYLS [2025]006).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The information was collected and to be published with the consent of the patient and her spouse.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"24"}}