{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T11:30:25Z","timestamp":1774611025950,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100016355","name":"Xuzhou Science and Technology Bureau","doi-asserted-by":"publisher","award":["KC21189"],"award-info":[{"award-number":["KC21189"]}],"id":[{"id":"10.13039\/501100016355","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100016355","name":"Xuzhou Science and Technology Bureau","doi-asserted-by":"publisher","award":["2019TD005"],"award-info":[{"award-number":["2019TD005"]}],"id":[{"id":"10.13039\/501100016355","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Health Commission Special Fund Planning Project of Xuzhou City","award":["KC21189"],"award-info":[{"award-number":["KC21189"]}]},{"name":"Health Commission Special Fund Planning Project of Xuzhou City","award":["2019TD005"],"award-info":[{"award-number":["2019TD005"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2023,3,9]]},"abstract":"<jats:p>The female characters with a 46, XY karyotype, historically termed Swyer syndrome, are commonly divided into complete and partial gonadal dysgenesis. The former is completely made up of the 46, XY chromosome, while the latter results from 45, X\/46, XY mosaicism. Both of them are sex chromosome disorders and are typically characterized by delayed puberty and primary amenorrhea due to disruption of the embryonic gonads into testes. In this report, we described a young female with mos 45, X [2]\/46, X, psu idic (Y) (q11.2) [48] by karyotyping. Further copy number variation sequencing (CNV-seq) and fluorescent in situ hybridization (FISH) verified her chromosome alteration. The following gonadectomy and hormone replacement therapy were carried out, and the menstrual cycle recovered along with the development of bilateral breasts and uteruses. Herein, we aim to provide clinical management strategies for the patient with Swyer syndrome in clinical practice.<\/jats:p>","DOI":"10.1155\/2023\/9127512","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T20:05:08Z","timestamp":1678392308000},"page":"1-5","source":"Crossref","is-referenced-by-count":2,"title":["45, X\/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome"],"prefix":"10.1155","volume":"2023","author":[{"given":"Yu","family":"Han","sequence":"first","affiliation":[{"name":"Graduate School of Xuzhou Medical University, Huaihai West Road No. 84, Xuzhou, Jiangsu, China"},{"name":"Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiebin","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangfang","family":"Tan","sequence":"additional","affiliation":[{"name":"Graduate School of Xuzhou Medical University, Huaihai West Road No. 84, Xuzhou, Jiangsu, China"},{"name":"Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China"},{"name":"Department of Gynecology and Obstetrics, Pizhou People\u2019s Hospital, Nanjing Road No. 9, Pizhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1966-7676","authenticated-orcid":true,"given":"Bei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Graduate School of Xuzhou Medical University, Huaihai West Road No. 84, Xuzhou, Jiangsu, China"},{"name":"Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7109-3193","authenticated-orcid":true,"given":"Jingfang","family":"Zhai","sequence":"additional","affiliation":[{"name":"Graduate School of Xuzhou Medical University, Huaihai West Road No. 84, Xuzhou, Jiangsu, China"},{"name":"Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuezhen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China"},{"name":"Graduate School of Bengbu Medical College, Donghai Avenue No. 2600, Bengbu, Anhui, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2008.01703.x"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2010.11.034"},{"key":"3","article-title":"An International System for Human Cytogenomic Nomenclature (2020)","volume-title":"Reprint of: Cytogenetic and Genome Research","author":"J. 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