Expanding the phenotype of duplication of the Rubinstein–Taybi region on 16p13.3
2009; Wiley; Volume: 149A; Issue: 12 Linguagem: Inglês
10.1002/ajmg.a.32662
ISSN1552-4833
AutoresBruno Dallapiccola, Laura Bernardini, Antonio Novelli, Rita Mingarelli,
Tópico(s)Chromosomal and Genetic Variations
ResumoAmerican Journal of Medical Genetics Part AVolume 149A, Issue 12 p. 2867-2870 Research Letter Expanding the phenotype of duplication of the Rubinstein–Taybi region on 16p13.3† Bruno Dallapiccola, Corresponding Author Bruno Dallapiccola [email protected] IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, Italy Department of Experimental Medicine, “Sapienza” University, Rome, ItalyCSS-Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy.Search for more papers by this authorLaura Bernardini, Laura Bernardini IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, ItalySearch for more papers by this authorAntonio Novelli, Antonio Novelli IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, ItalySearch for more papers by this authorRita Mingarelli, Rita Mingarelli IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, ItalySearch for more papers by this author Bruno Dallapiccola, Corresponding Author Bruno Dallapiccola [email protected] IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, Italy Department of Experimental Medicine, “Sapienza” University, Rome, ItalyCSS-Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy.Search for more papers by this authorLaura Bernardini, Laura Bernardini IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, ItalySearch for more papers by this authorAntonio Novelli, Antonio Novelli IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, ItalySearch for more papers by this authorRita Mingarelli, Rita Mingarelli IRCCS “Casa Sollievo della Sofferenza” and Mendel Institute, Rome, ItalySearch for more papers by this author First published: 16 November 2009 https://doi.org/10.1002/ajmg.a.32662Citations: 10 † How to Cite this Article: Dallapiccola B, Bernardini L, Novelli A, Mingarelli R. 2009. Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3. Am J Med Genet Part A 149A:2867–2870. 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 Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. 2007. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. Am J Med Genet Part A 143A: 2937–2943. De Ravel T, Aerssens P, Vermeesch JR, Fryns JP. 2005. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22q13. Eur J Med Genet 48: 355–359. Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJM, Kennedy GC, Krywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong S-L, Zahir F, Eydoux P, Marra MA. 2006. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79: 500–513. Hennekam RC. 2006. Rubinstein-Taybi syndrome. Eur J Hum Genet 14: 981–985. Kokalj-Vokac N, Medica I, Zagorac A, Zagradisnik B, Erjavec A, Gregoric A. 2000. A case of insertional translocation resulting in partial trisomy 16p. Ann Genet 43: 131–135. Marangi G, Leuzzi V, Orteschi D, Grimaldi ME, Lecce R, Neri G, Zollino M. 2008. Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. Am J Med Genet Part A 146A: 2313–2317. Oike Y, Hata A, Mamiya T, Kaname T, Noda Y, Suzuki M, Yasue H, Nabeshima T, Araki K, Yamamura K. 1999. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: Implications for a dominant-negative mechanism. Hum Mol Genet 8: 387–396. Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB. 2007. Pure subtelomeric microduplications as a cause of mental retardation. Clin Genet 72: 362–368. Tanaka Y, Naruse I, Maekawa T, Masuya H, Shiroishi T, Ishii S. 1997. Abnormal skeletal patterning in embryos lacking a single Cbp allele: A partial similarity with Rubinstein–Taybi syndrome. Proc Natl Acad Sci USA 94: 10215–10220. Thienpont B, Breckpot J, Holvoet M, Vermeesch JR, Devriendt K. 2007. A microduplication of CBP in a patient with mental retardation and congenital heart defect. Am J Med Genet Part A 143A: 2160–2164. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. 2003. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet Part A 119A: 101–110. Citing Literature Volume149A, Issue12December 2009Pages 2867-2870 ReferencesRelatedInformation
Referência(s)