{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T13:07:31Z","timestamp":1787663251112,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T00:00:00Z","timestamp":1731369600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>When the <jats:italic>SRY<\/jats:italic> gene is present in a 46,XX fetus, some degree of testicular development is expected. Our laboratory performed prenatal genetic testing for a fetus that had screened positive for Y chromosome material by noninvasive prenatal screening (NIPS) but that had apparently typical female development by ultrasound imaging. The aim of this study was to determine the clinical relevance of the NIPS results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed fetal material obtained via amniocentesis procedure by G\u2010banding, microarray, and fluorescence in\u00a0situ hybridization (FISH). Optical genome mapping (OGM) was also performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>G\u2010band analysis revealed a normal 46,XX karyotype. Microarray and FISH analyses together detected an <jats:italic>SRY<\/jats:italic>+ gain of 5.7\u2009Mb from terminal Yp that was translocated to terminal Xq, with a loss of 1.6\u2009Mb from terminal Xq. The final karyotype was 46,X,der(X)t(X;Y)(q28;p11.2). Prenatal ultrasound and postnatal physical examination revealed apparently typical female genitalia. The Xq deletion encompassed a gene, <jats:italic>IKBKG<\/jats:italic>, that is sensitive to loss of function, suggesting that preferential inactivation of the derivative X chromosome allowed for typical female development. OGM software did not directly identify this translocation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case demonstrates how the <jats:italic>SRY<\/jats:italic> gene may be present in a 46,XX biological female without differences of sexual development.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70033","type":"journal-article","created":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T10:15:18Z","timestamp":1731406518000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp><i>SRY<\/i><\/scp>+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1717-7967","authenticated-orcid":false,"given":"Casey J.","family":"Brewer","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyxis G.","family":"Coyan","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicki","family":"Smith","sequence":"additional","affiliation":[{"name":"Seton Center, Good Samaritan Hospital TriHealth Hospital Systems  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa A.","family":"Smolarek","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,12]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2009.22.1.97"},{"key":"e_1_2_12_3_1","volume-title":"Thompson & Thompson Genetics in Medicine","author":"Cohn R.","year":"2020"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576\u2010021\u201000365\u20105"},{"key":"e_1_2_12_5_1","volume-title":"GeneReviews ((R))","author":"Delot E. 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