Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: New highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome

Journal of Medical Genetics

Volumn 44, Issue 4, 2007, Pages 257-263

  Grati, F R ^a,b   Turolla, L ^c   D'Ajello, P ^d   Ruggeri, A ^b   Miozzo, M ^e   Bracalente, G ^c   Baldo, D ^c   Laurino, L ^c   Boldorini, R ^d   Frate, E ^b   Surico, N ^c   Larizza, L ^d   Maggi, F ^b   Simoni, G ^b  

^a TOMA Advanced Biomedical Assays SpA   (Italy)

^b Laboratorio TOMA   (Italy)

^c Azienda ULSS   (Italy)

^d UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; PROTEIN P57;

AMNION CELL; AMNION FLUID CYTOLOGY; AMNIOTIC FLUID CELL; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CLINICAL ARTICLE; DNA METHYLATION; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; OMPHALOCELE; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

ABORTION, EUGENIC; ADULT; AMNIOCENTESIS; AMNIOTIC FLUID; BECKWITH-WIEDEMANN SYNDROME; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 11; COHORT STUDIES; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HERNIA, UMBILICAL; HUMANS; ITALY; KARYOTYPING; MICROSATELLITE REPEATS; PHENOTYPE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL; UNIPARENTAL DISOMY;

EID: 34247169055     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.046854     Document Type: Article

References (30)

1. Elliott M, Maher ER. Beckwith-Wiedemann syndrome. J Med Genet 1994;31:560-4.
2. Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C 2005;137:12-23.
3. Williams DH, Gauthier DW, Maizels M. Prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn 2005;25:879-84.
4. Matter ER, Reik W. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000;105:247-52.
5. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991;351:665-7.
6. Cooper WN, Luharia A, Evans GA, Raza H, Hoire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2005;13:1025-32.
7. Bliek J, Gicquel C, Maas S, Gaston V, Le Bouc Y, Mannens M. Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr 2004;145:796-9.
8. DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth detects. Am J Hum Genet 2002;70:604-11.
9. Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. Analysis of me methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2001;9:409-18.
10. Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000;37:921-6.
11. Russo S, Mencarelli M, Cavalleri F, Selicorni A, Cogliati F, Larizza L. A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome. Mol Cell Probes 2003;17:295-9.
12. Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQIOT1 methylation: occurrence of KCNQIOT1 hypomethylation in familial cases of BWS. Hum Mol Genet 2001;10:467-76.
13. Mulik V, Wellesley D, Sawdy R, Howe DT. Unusual prenatal presentation of Beckwith-Wiedemann syndrome. Prenat Diagn 2004;24:501-3.
14. Lodeiro JG, Byers JW III, Chuipek S, Feinstein SJ. Prenatal diagnosis and perinatal management of the Beckwith-Wiedemann syndrome: a case and review. Am J Perinatol 1989;6:446-9.
15. Wieacker P, Wilhelm C, Greiner P, Schillinger H. Prenatal diagnosis of Wiedemann-Beckwith syndrome. J Perinat Med 1989;17:351-5.
16. Cobellis G, Iannoto P, Stabile M, Lonardo F, Della Bruna M, Caliendo E, Ventruto V. Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome. Prenat Diagn 1988;8:79-81.
17. Fremond B, Poulain P, Odent S, Milon J, Treguier C, Babut MJ. Prenatal detection of a congenital pancreatic cyst and Beckwith-Wiedemann syndrome. Prenat Diagn 1997;17:276-80.
18. Nowotny T, Bollmann R, Pfeifer L, Windt E. Beckwith-Wiedemann syndrome: difficulties with prenatal diagnosis. Fetal Diagn Ther 1994;9:256-60.
19. Reish O, Lerer I, Amiel A, Heyman E, Herman A, Dolfin T, Abeliovich D. Wiedemann-Beckwith syndrome: further prenatal characterization of the condition. Am J Med Genet 2002;107:209-13.
20. Winter SC, Curry CJ, Smith JC, Kassel S, Miller L, Andrea J. Prenatal diagnosis of Beckwith-Wiedemann syndrome. Am J Med Genet 1986;24:137-41.
21. Viljoen DL, Jaquire Z, Woods DL. Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome. Prenat Diagn 1991;11:167-75.
22. Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER. Analysis of germline CDKN1C (p57KIP2) mutations and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet 1999;36:518-23.
23. Grundy P, Telzerow P, Paterson MC, Haber D, Berman B, Li F, Garber J. Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasm [letter]. Lancet 1991;338:1079-80.
24. Webb A, Beard J, Wright C, Robson S, Wolstenhalme J, Goodship J. A case of paternal uniparental disomy for chromosome 11. Prenat Diagn 1995;15:773-7.
25. Dully F, Baumer A, Kayserili H, Yuksel-Apak M, Zerova T, Hebisch G, Schinzel A. Seven cases of Beckwith-Wiedemann syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 1998;79:347-53.
26. Catchpoole D, Lam WWK, Valler D, Temple IK, Joyce JA, Reik W, Scholfield PN, Maher ER. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet 1997;34:353-9.
27. Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 1994;31:749-53.
28. Itoh N, Becroft DM, Reeve AE, Morison IM. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-Beckwith syndrome. Am J Med Genet 2000;92:111-16.
29. de Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fekete C, Saudubray JM, Junien C. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997;100:802-7.
30. Sinico M, Touboul C, Haddad B, Encha-Razavi F, Paniel JB, Gicquel C, Gerard-Blanluet M. Giant omphalocoele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome. Am J Med Genet A 2004;129:198-200.