By Woodruff T.K.
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J Formos Med Assoc 89:132-136, 1990. Chitayat D, Friedman JM, Dimmick JE: Neuroblastoma in a child with Wiedemann-Beckwith syndrome. Am J Med Genet 35:433-436, 1990. Choyke PL, Siegel MJ, Craft AW, Green DM, DeBaun MR: Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol 32:196-200, 1999. Choyke PL, Siegel MJ, Oz O, Sotelo-Avila C, DeBaun MR: Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. Am J Roentgenol 171:733-737, 1998.
It shows homology to TDAG51, a gene involved in apoptosis. Loss of apoptosis is a wellrecognized mechanism leading to cancer (72). Intriguingly, a recent study identified biallelic expression for TSSC3 in normal adult brain but "gain of imprinting" in human neuroblastoma and brain tumors (72), constituting a novel imprinting mechanism for decreasing expression of a potential growth inhibitory gene. Aberrant imprinting of this gene has not been demonstrated in BWS to date. BECKWITH-WIEDEMANN SYNDROME 17 Domain 2 (37a,66).
45. Hoyme HE, Seaver LH, Jones KL, Procopio F, Crooks W, Feingold M: Isolated hemihyperplasia (hemihypertrophy): Report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet 79:274-278, 1998. 45a. Itoh N, Becroft DMO, Reeve AE, Morison IM: Proportion of cells with paternal llplS uniparental disomy correlated with organ enlargement in Wiedemann-Beckwith syndrome. Am J Med Genet 92:111-116, 2000. 29 BECKWITH-WIEDEMANN SYNDROME 46. Jong MT, Carey AH, Caldwell KA, Lau MH, Handel MA, Driscoll DJ, Stewart CL, Rinchik EM, Nicholls RD: Imprinting of a RING zincfinger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.