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We present two cases of absent uterus and unilateral renal agenesis in females with the 22q11.2 deletion. Clinicians caring for these adolescents should be aware of the possibility of renal anomalies and Mullerian agenesis. The diagnosis of 22q11.2 deletion may be considered in a female with Mullerian agenesis, particularly, in association with a history of learning difficulties and speech delay. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31736","type":"journal-article","created":{"date-parts":[[2007,8,3]],"date-time":"2007-08-03T18:16:57Z","timestamp":1186165017000},"page":"2016-2018","source":"Crossref","is-referenced-by-count":43,"title":["Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Usha T.","family":"Sundaram","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale","family":"Huff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Driscoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joann","family":"Bodurtha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,8,3]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.5.423"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0065-3101(23)00073-7","article-title":"The 22q11.2 deletion syndrome","volume":"48","author":"Emanuel BS","year":"2001","journal-title":"Adv Pediatr"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(16)32683-7"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-815593"},{"key":"e_1_2_4_7_1","first-page":"283","article-title":"The first autopsy series in patients with a 22q11.2 deletion","volume":"69","author":"Huff DS","year":"2001","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2001"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022784"},{"key":"e_1_2_4_10_1","first-page":"11","article-title":"The Philadelphia story: The 22q11.2 deletion: Report on 250 patients","volume":"10","author":"McDonald\u2010McGinn DM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026880"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.8.719"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)64215-2"}],"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.31736","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31736","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T07:26:25Z","timestamp":1708154785000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31736"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,3]]},"references-count":12,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["10.1002\/ajmg.a.31736"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31736","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,3]]}}}