{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T04:55:10Z","timestamp":1769835310191,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2008,9,16]],"date-time":"2008-09-16T00:00:00Z","timestamp":1221523200000},"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":[[2008,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledge, this is the first description of an XY fetus with a pure duplication of the entire short arm of X chromosome. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32514","type":"journal-article","created":{"date-parts":[[2008,9,16]],"date-time":"2008-09-16T21:23:22Z","timestamp":1221600202000},"page":"2681-2687","source":"Crossref","is-referenced-by-count":5,"title":["Sex reversal from functional disomy of Xp: Prenatal and post\u2010mortem findings"],"prefix":"10.1002","volume":"146A","author":[{"given":"Maria","family":"Piccione","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emiliano","family":"Maresi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Sanfilippo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Seminara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Corsello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,9,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30755"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201663"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.12.987"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0505"},{"key":"e_1_2_6_6_1","first-page":"862","article-title":"Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers","volume":"56","author":"Bardoni B","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218838"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/349082a0"},{"key":"e_1_2_6_9_1","first-page":"216","article-title":"Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation","volume":"33","author":"Gustashaw KM","year":"1994","journal-title":"Am J Med Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.1996.9.3.429"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610111.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30652"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<44::AID-AJMG8>3.0.CO;2-Z"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580205.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30115"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30200"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-404"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/35799"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-497"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32514","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32514","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:20:37Z","timestamp":1697617237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32514"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,16]]},"references-count":18,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2008,10,15]]}},"alternative-id":["10.1002\/ajmg.a.32514"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32514","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,16]]}}}