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Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

2007; Wiley; Volume: 143A; Issue: 15 Linguagem: Inglês

10.1002/ajmg.a.31661

1552-4833

Juliana F. Mazzeu, Ana Cristina Victorino Krepischi, Carla Rosenberg, Károly Szuhai, Jeroen Knijnenburg, Janneke M.M. Weiss, Irina Kerkis, Zan Mustacchi, Guilherme Colin, Rômulo Mombach, Rita de Cássia M. Pavanello, Paulo Alberto Otto, Angela Maria Vianna‐Morgante,

Wnt/β-catenin signaling in development and cancer

American Journal of Medical Genetics Part AVolume 143A, Issue 15 p. 1790-1795 Research Letter Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome† Juliana F. Mazzeu, Juliana F. Mazzeu Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorAna Cristina Krepischi-Santos, Ana Cristina Krepischi-Santos Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorCarla Rosenberg, Carla Rosenberg Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorKaroly Szuhai, Karoly Szuhai Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorJeroen Knijnenburg, Jeroen Knijnenburg Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorJanneke M.M. Weiss, Janneke M.M. Weiss Department of Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorIrina Kerkis, Irina Kerkis Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorZan Mustacchi, Zan Mustacchi Hospital Infantil Darcy Vargas, São Paulo, BrazilSearch for more papers by this authorGuilherme Colin, Guilherme Colin Departamento de Genética Médica, Univille, Joinville, BrazilSearch for more papers by this authorRômulo Mombach, Rômulo Mombach Centrinho Prefeito Luiz Gomes,Secretaria Municipal de Saúde, Joinville, BrazilSearch for more papers by this authorRita de Cássia M. Pavanello, Rita de Cássia M. Pavanello Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorPaulo A. Otto, Paulo A. Otto Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorAngela M. Vianna-Morgante, Corresponding Author Angela M. Vianna-Morgante [email protected] Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilDepartamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo; C.P.11461; 05422-970-São Paulo, SP, Brazil.Search for more papers by this author Juliana F. Mazzeu, Juliana F. Mazzeu Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorAna Cristina Krepischi-Santos, Ana Cristina Krepischi-Santos Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorCarla Rosenberg, Carla Rosenberg Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorKaroly Szuhai, Karoly Szuhai Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorJeroen Knijnenburg, Jeroen Knijnenburg Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorJanneke M.M. Weiss, Janneke M.M. Weiss Department of Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorIrina Kerkis, Irina Kerkis Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorZan Mustacchi, Zan Mustacchi Hospital Infantil Darcy Vargas, São Paulo, BrazilSearch for more papers by this authorGuilherme Colin, Guilherme Colin Departamento de Genética Médica, Univille, Joinville, BrazilSearch for more papers by this authorRômulo Mombach, Rômulo Mombach Centrinho Prefeito Luiz Gomes,Secretaria Municipal de Saúde, Joinville, BrazilSearch for more papers by this authorRita de Cássia M. Pavanello, Rita de Cássia M. Pavanello Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorPaulo A. Otto, Paulo A. Otto Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorAngela M. Vianna-Morgante, Corresponding Author Angela M. Vianna-Morgante [email protected] Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilDepartamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo; C.P.11461; 05422-970-São Paulo, SP, Brazil.Search for more papers by this author First published: 29 June 2007 https://doi.org/10.1002/ajmg.a.31661Citations: 11 † How to cite this article: Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JMM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello RM, Otto PA, Vianna-Morgante AM. 2007. Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. Am J Med Genet Part A 143A:1790–1795. 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 Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Afzal AR, Rajab A, Fenske C, Oldridge M, Elanko N, Terne-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AOM, Jeffery S. 2000. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet 25: 419–422. Al-Awadi SA, Farag TI, Usha R, El-Khalifa MY, Sundareshan TS, Al-Othman AS. 1986. Brief clinical report: Interstitial deletion of the long arm of chromosome 1 (del(1)(q32q42)). 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