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Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐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
2006; Wiley; Volume: 140A; Issue: 12 Linguagem: Inglês
10.1002/ajmg.a.31254
ISSN1552-4833
AutoresC. Cheroki, Ana Cristina Victorino Krepischi, Carla Rosenberg, Fernanda Sarquis Jehee, Regina Célia Mingroni‐Netto, Ivo Pavanello Filho, Sebastião Marques Zanforlin Filho, Chong Ae Kim, Vicente Renato Bagnoli, Berenice B. Mendonça, Károly Szuhai, Paulo Alberto Otto,
Tópico(s)Cancer-related molecular mechanisms research
ResumoAmerican Journal of Medical Genetics Part AVolume 140A, Issue 12 p. 1339-1342 Research Letter Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-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† Carola Cheroki, Carola Cheroki Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorAna Cristina Krepischi-Santos, Ana Cristina Krepischi-Santos Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorCarla Rosenberg, Carla Rosenberg Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorFernanda Sarquis Jehee, Fernanda Sarquis Jehee Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorRegina Célia Mingroni-Netto, Regina Célia Mingroni-Netto Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorIvo Pavanello Filho, Ivo Pavanello Filho Medical Center Bela Vista, SP, BrazilSearch for more papers by this authorSebastião Zanforlin Filho, Sebastião Zanforlin Filho CETRUS, Centro de Treinamento em Ultra-sonografia de São Paulo, SP, BrazilSearch for more papers by this authorChong Ae Kim, Chong Ae Kim Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorVicente R. Bagnoli, Vicente R. Bagnoli Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorBerenice B. Mendonça, Berenice B. Mendonça Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorKaroly Szuhai, Karoly Szuhai Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorPaulo A. Otto, Corresponding Author Paulo A. Otto [email protected] Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilDepartment of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05422-970 São Paulo, SP, Brazil.Search for more papers by this author Carola Cheroki, Carola Cheroki Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorAna Cristina Krepischi-Santos, Ana Cristina Krepischi-Santos Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorCarla Rosenberg, Carla Rosenberg Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorFernanda Sarquis Jehee, Fernanda Sarquis Jehee Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorRegina Célia Mingroni-Netto, Regina Célia Mingroni-Netto Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorIvo Pavanello Filho, Ivo Pavanello Filho Medical Center Bela Vista, SP, BrazilSearch for more papers by this authorSebastião Zanforlin Filho, Sebastião Zanforlin Filho CETRUS, Centro de Treinamento em Ultra-sonografia de São Paulo, SP, BrazilSearch for more papers by this authorChong Ae Kim, Chong Ae Kim Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorVicente R. Bagnoli, Vicente R. Bagnoli Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorBerenice B. Mendonça, Berenice B. Mendonça Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, SP, BrazilSearch for more papers by this authorKaroly Szuhai, Karoly Szuhai Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorPaulo A. Otto, Corresponding Author Paulo A. Otto [email protected] Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, BrazilDepartment of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05422-970 São Paulo, SP, Brazil.Search for more papers by this author First published: 11 May 2006 https://doi.org/10.1002/ajmg.a.31254Citations: 57 † How to cite this article: Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Filho IP, Filho SZ, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA. 2006. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-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 Part A 140A:1339–1342. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. 2004. A WNT-4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. New Eng J Med 351: 792– 798. Clément-Ziza M, Khen N, Gonzales J, Crétolle-Vastel C, Picard J, Tullio-Pelet A, Besmond C, Munnich A, Lyonnet S, Nihoul-Fékété C. 2005. Exclusion of WNT4 gene as the major gene in Rokitansky-Küster-Hauser anomaly. Am J Med Genet Part A 137A: 98– 99. Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. 1997. 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