{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T19:52:51Z","timestamp":1784145171119,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T00:00:00Z","timestamp":1133827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral gonadoblastoma shared a male karyotype with a rearranged Y chromosome, interpreted as a pericentric inversion. The breakpoints, defined by fluorescent in situ hybridization (FISH), were located on the very distal short arm on band Yp11.31 and in the middle of the Yq12 long arm heterochromatic region. FISH analysis documented that the short arm breakpoint was 93 Kb distal to <jats:italic>SRY<\/jats:italic> and disrupted the <jats:italic>CD99<\/jats:italic> gene, which was transposed to the distal portion of Yq12. The proposita's phenotype was similar to that of XY individuals with gonadal dysgenesis but without signs of Ullrich\u2014Turner syndrome. There were no mutations in the <jats:italic>SRY<\/jats:italic> gene. Cytogenetic analysis in the proposita's father showed mosaicism of a normal Y chromosome and several different rearrangements, such as deletion of a heterochromatin portion at band Yq12.2, a fragile site at the same band, structural rearrangements between the Y\u2010chromosome and other autosomes, Y\u2010chromosome aneuploidies, and \u201cPremature Centromere Division\u201d (PCD) anomaly. The proposita's inverted Y chromosome appears to have originated from paternal Y chromosome instability. The patient's female phenotype could be due to <jats:italic>SRY<\/jats:italic> CpG methylation\u2010mediated positional effects (PEV). \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31044","type":"journal-article","created":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T21:17:10Z","timestamp":1133903830000},"page":"40-45","source":"Crossref","is-referenced-by-count":19,"title":["A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies"],"prefix":"10.1002","volume":"140A","author":[{"given":"Giorgio","family":"Gimelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giorda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Beri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Gimelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,12,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.11.030"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-301"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<90::AID-HUMU14>3.0.CO;2-U"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90129-Z"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00307-X"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1734522"},{"key":"e_1_2_7_9_1","first-page":"979","article-title":"Evidence for increased prevalence of SRY mutation in XY females with complete rather than partial gonadal dysgenesis","volume":"51","author":"Hawkins JR","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_10_1","first-page":"47","article-title":"Inherited pericentric inversion of Y\u2010chromosome with trisomy 21","volume":"32","author":"Krishna Murthy DS","year":"1989","journal-title":"Ann Genet"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-16"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272391"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309513200"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.44.27848"},{"key":"e_1_2_7_17_1","first-page":"60","article-title":"Familial pericentric inversion of the Y chromosome","volume":"27","author":"Tooth A","year":"1984","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(98)80135-4"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31044","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31044","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T05:49:32Z","timestamp":1700027372000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31044"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,6]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["10.1002\/ajmg.a.31044"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31044","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12,6]]}}}