Portal de Periódicos da CAPES

‘Severe’ Prader–Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation

2002; Wiley; Volume: 63; Issue: 1 Linguagem: Inglês

10.1034/j.1399-0004.2003.630114.x

1399-0004

Masayuki MATSUMURA, Takeo Kubota, Eiko Hidaka, Keiko Wakui, Shinichi Kadowaki, I Ueta, Takaki Shimizu, Ichiro Ueno, Kiyo Yamauchi, LB Herzing, EL Nurmi, James S. Sutcliffe, Yoshihisa Fukushima, Teruo Katsuyama,

Epigenetics and DNA Methylation

Clinical GeneticsVolume 63, Issue 1 p. 79-81 ‘Severe’ Prader–Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation M Matsumura, M MatsumuraSearch for more papers by this authorT Kubota, T KubotaSearch for more papers by this authorE Hidaka, E HidakaSearch for more papers by this authorK Wakui, K WakuiSearch for more papers by this authorS Kadowaki, S KadowakiSearch for more papers by this authorI Ueta, I UetaSearch for more papers by this authorT Shimizu, T ShimizuSearch for more papers by this authorI Ueno, I UenoSearch for more papers by this authorK Yamauchi, K YamauchiSearch for more papers by this authorLB Herzing, LB HerzingSearch for more papers by this authorEL Nurmi, EL NurmiSearch for more papers by this authorJS Sutcliffe, JS SutcliffeSearch for more papers by this authorY Fukushima, Y FukushimaSearch for more papers by this authorT Katsuyama, T KatsuyamaSearch for more papers by this author M Matsumura, M MatsumuraSearch for more papers by this authorT Kubota, T KubotaSearch for more papers by this authorE Hidaka, E HidakaSearch for more papers by this authorK Wakui, K WakuiSearch for more papers by this authorS Kadowaki, S KadowakiSearch for more papers by this authorI Ueta, I UetaSearch for more papers by this authorT Shimizu, T ShimizuSearch for more papers by this authorI Ueno, I UenoSearch for more papers by this authorK Yamauchi, K YamauchiSearch for more papers by this authorLB Herzing, LB HerzingSearch for more papers by this authorEL Nurmi, EL NurmiSearch for more papers by this authorJS Sutcliffe, JS SutcliffeSearch for more papers by this authorY Fukushima, Y FukushimaSearch for more papers by this authorT Katsuyama, T KatsuyamaSearch for more papers by this author First published: 20 December 2002 https://doi.org/10.1034/j.1399-0004.2003.630114.xCitations: 13Read 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 1 Amos-Landgraf JM, Ji Y, Gottlieb W et al. Chromosome breakage in the Prader–Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 1999: 65: 370 – 386. 2 Kucerova M, Strakova M, Polivkova Z. The Prader–Willi syndrome with a 15/3 translocation. J Med Genet 1979: 16: 234 – 235. 3 Duckett DP, Roberts SH. Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature. Hum Genet 1981: 58: 377 – 386. 4 Hasegawa T, Hara M, Ando M et al. Cytogenetic studies of familial Prader–Willi syndrome. Hum Genet 1984: 65: 325 – 330. 5 Hulten M, Armstrong S, Challinor P et al. Genomic imprinting in an Angelman and Prader–Willi translocation family. Lancet 1991: 338: 638 – 639. 6 Krajewska-Walasek M, Gutkowska A, Bielinska B, Goryluk-Kozakiewicz B, Popowska E. A case of Prader–Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13). Clin Genet 1998: 54: 60 – 64. 7 Smith A, Jauch A, St Heaps L, Robson L, Kearney B. Unbalanced translocation t(15;22) in severe Prader–Willi syndrome. Ann Genet 2000: 43: 125 – 130. 8 Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR simplifies imprinting analysis. Nat Genet 1997: 16: 16 – 17. 9 Bacino CA, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, Graham JM Jr. Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am J Med Genet 1995: 56: 359 – 365. 10 Ogawa O, Becroft DM, Morison IM et al. Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism. Nat Genet 1993: 5: 408 – 412. Citing Literature Volume63, Issue1January 2003Pages 79-81 ReferencesRelatedInformation