{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T16:24:49Z","timestamp":1773159889760,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:00:00Z","timestamp":1618963200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:00:00Z","timestamp":1618963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Mayer-Rokitansky-K\u00fcster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed a microduplication of approximately 3.01 megabases (Mb) located on the long arm of chromosome 22 (22q11.21). Microduplications affecting the 22q11.21 region have been shown to be associated with MRKH syndrome and M\u00fcllerian aplasia. The phenotype of patients with 22q11.2 duplication (OMIM #608363) appears extremely variable, ranging from apparently normal to mild learning difficulties or with multiple defects, sharing features with DiGeorge\/velocardiofacial (DGS\/VCFS) syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The altered gene expression together with other genetic, nongenetic, epigenetic or environmental factors can cause the extremely variable phenotype in patients carrying such duplication. Therefore, we can consider MRKH syndrome to be one of the clinical features of DGS\/VCFS syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-02716-6","type":"journal-article","created":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T09:12:04Z","timestamp":1618996324000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mayer-Rokitansky-K\u00fcster-Hauser syndrome with 22q11.21 microduplication: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Domenico","family":"Dell\u2019Edera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arianna","family":"Allegretti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Ventura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludovica","family":"Mercuri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Mitidieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacinto","family":"Cuscianna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annunziata Anna","family":"Epifania","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisena","family":"Morizio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Alfonsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Guanciali-Franchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,4,21]]},"reference":[{"issue":"12","key":"2716_CR1","doi-asserted-by":"publisher","first-page":"1339","DOI":"10.1002\/ajmg.a.31254","volume":"140","author":"C Cheroki","year":"2006","unstructured":"Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendon\u00e7a BB, Szuhai K, Otto PA. Report of a del22q11 in a patient with Mayer-Rokitansky-K\u00fcster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A. 2006;140(12):1339\u201342.","journal-title":"Am J Med Genet A."},{"issue":"1","key":"2716_CR2","first-page":"3","volume":"30","author":"S Ledig","year":"2018","unstructured":"Ledig S, Wieacker P. Clinical and genetic aspects of Mayer-Rokitansky-K\u00fcster-Hauser syndrome. Med Genet. 2018;30(1):3\u201311.","journal-title":"Med Genet."},{"issue":"5","key":"2716_CR3","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1016\/j.fertnstert.2010.07.1062","volume":"95","author":"S Ledig","year":"2011","unstructured":"Ledig S, Schippert C, Strick R, Beckmann MW, Oppelt PG, Wieacker P. Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-K\u00fcster-Hauser syndrome. 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Seattle (WA): University of Washington, Seattle; 1993-2020. 2009 Feb 17 [updated 2013 Nov 21]."},{"issue":"2\u20133","key":"2716_CR8","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.ejmg.2009.02.008","volume":"52","author":"MF Portno\u00ef","year":"2009","unstructured":"Portno\u00ef MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet. 2009;52(2\u20133):88\u201393.","journal-title":"Eur J Med Genet."},{"issue":"4","key":"2716_CR9","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1097\/GIM.0b013e31816b64c2","volume":"10","author":"Z Ou","year":"2008","unstructured":"Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q112 are frequently inherited and are associated with variable phenotypes. 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Dev Disabil Res Rev. 2008;14(1):19\u201325.","journal-title":"Dev Disabil Res Rev."}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02716-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-021-02716-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02716-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T09:58:56Z","timestamp":1618999136000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-02716-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,21]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2716"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-02716-6","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,21]]},"assertion":[{"value":"14 October 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 February 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 April 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Published research complies with the guidelines for human studies, and it was conducted ethically in accordance with the World Medical Association Declaration of Helsinki.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian(s)  for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"208"}}