{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:49:34Z","timestamp":1791067774541,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2007,10,12]],"date-time":"2007-10-12T00:00:00Z","timestamp":1192147200000},"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":[[2007,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Children with WAGR syndrome invariably have a constitutional chromosomal deletion at 11p13. <jats:italic>WT1<\/jats:italic> haploinsufficiency is associated with a significant risk of Wilms tumor while <jats:italic>PAX6<\/jats:italic> haploinsufficiency lead to aniridia, both genes located in the deleted region. The 46,XY patients with WAGR syndrome are often born with genital abnormalities such as cryptorchidism or hypospadias but more rarely ambiguous genitalia. To our knowledge, complete sex reversal has never been observed in WAGR syndrome patients. Here, we report on the clinical, cytogenetic, and molecular characterization of a child with WAGR syndrome and complete sex reversal. The young girl had female external and internal genitalia with normal uterus and fallopian tubes while the ovaries were not observed. Chromosomal analysis showed a 46,XY,del(11)(p12p14.1) karyotype. A 1\u2010Mb resolution array CGH experiment estimated the size of the interstitial deletion at \u224810 Mb encompassing <jats:italic>WT1<\/jats:italic> and <jats:italic>PAX6<\/jats:italic>. The entire coding regions of <jats:italic>WT1<\/jats:italic> and <jats:italic>SRY<\/jats:italic> have been sequenced and no mutation has been identified. Frasier syndrome (FS) and Denys\u2010Drash syndrome (DDS) are two disorders associated with mutations in the <jats:italic>WT1<\/jats:italic> gene. Complete sex reversal is a feature usually present in FS and sometimes in DDS, but until now never observed in WAGR syndrome. The present report suggests that these conditions may be considered as part of the spectrum of disease due to <jats:italic>WT1<\/jats:italic> gene alterations. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31997","type":"journal-article","created":{"date-parts":[[2007,10,12]],"date-time":"2007-10-12T21:47:30Z","timestamp":1192225650000},"page":"2692-2695","source":"Crossref","is-referenced-by-count":26,"title":["Complete sex reversal in a WAGR syndrome patient"],"prefix":"10.1002","volume":"143A","author":[{"given":"Cedric","family":"Le Caignec","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Delnatte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris R.","family":"Vermeesch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Boceno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francoise","family":"Lavenant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marie","family":"Rival","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,10,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-467"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/344396"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"2219","DOI":"10.1681\/ASN.V10102219","article-title":"Mother\u2010to\u2010child transmitted WT1 splice\u2010site mutation is responsible for distinct glomerular diseases","volume":"10","author":"Denamur E","year":"1999","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10155"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0467"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201719"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/301806"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.00980.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.742"},{"key":"e_1_2_7_11_1","first-page":"C88","article-title":"Mutations of WT1 gene in a family with Denys\u2010Drash and focal segmental sclerosis","volume":"12","author":"Martinot L","year":"1998","journal-title":"Abstr Paediatr Nephrol"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670000541"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196404302701802"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.6.2931"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.4A6436.2005"}],"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.31997","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31997","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:40:36Z","timestamp":1697596836000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31997"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,12]]},"references-count":15,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2007,11,15]]}},"alternative-id":["10.1002\/ajmg.a.31997"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31997","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,12]]}}}