{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:10:15Z","timestamp":1787587815477,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T00:00:00Z","timestamp":1704844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Generally, the translocation of\n                      <jats:italic>SRY<\/jats:italic>\n                      onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying\n                      <jats:italic>SRY<\/jats:italic>\n                      were identified in this study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified two fetuses with maternal inherited unbalanced X; Y translocations carrying\n                      <jats:italic>SRY<\/jats:italic>\n                      and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (\n                      <jats:italic>SRY<\/jats:italic>\n                      +) and random XCI manifested male phenotypic external genitalia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study reports that cases with unbalanced X; Y translocations carrying\n                      <jats:italic>SRY<\/jats:italic>\n                      manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of\n                      <jats:italic>SRY<\/jats:italic>\n                      . In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6520","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T01:50:29Z","timestamp":1704937829000},"page":"580-585","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Unbalanced X;Y translocations carrying\n                    <i>SRY<\/i>\n                    in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2947-9492","authenticated-orcid":false,"given":"Xijing","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7489-6917","authenticated-orcid":false,"given":"Zhu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiamin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieni","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingping","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8788-7991","authenticated-orcid":false,"given":"Shanling","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4642-3848","authenticated-orcid":false,"given":"Ting","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu 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