Beckwiüi-Wiedemann syndrome in a child with chromosome 18q deletion

Journal of Medical Genetics

Volumn 35, Issue 2, 1998, Pages 162-164

  Brewer, C M ^a   Lam, W W K ^a   Hayward, C ^b   Grace, E ^b   Maher E R ^c   Fitzpatrick, D R ^c  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c RHSC   (United Kingdom)

Author keywords

Beckwith wiedemann syndrome; Chromosome 18q22.1; Chromosome deletion; Imprinting

Indexed keywords

TRANS ACTING FACTOR;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME DELETION; CLINICAL FEATURE; FEMALE; GENE LOCATION; GENOME IMPRINTING; HUMAN; HUMAN CELL; INFANT; NEWBORN; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

EID: 0031960470     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. de Grouchy J, Royer P, Salmon C, Lamy M. Deletion parteille des bras longs du chromosome 18. Patliol Biol 1964;12:579-82.
2. Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18 (del ISq). Am JMed Genet 1979;3:155-74.
3. Felding I, Kristoffersson U, Sjostrom H, Noren O. Contribution to the 18q- syndrome. A patient with del(18)(q22.3qter). din Genet 1987;31:206-10.
4. Miller G, Mowrey PN, Hopper KD, Frankel CA, Ladda RL. Neurological manifestations in 18q- syndrome. Am J Aled Genet 1990;37:128-32.
5. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. Analysis of clinical variation seen in patients with 18q terminal deletions. Am JMcd Genet 1995;59:476-83.
6. Qazi QH, Madahar C, Alvi S, McGann B. Distal 18q deletion without findings of 18q- syndrome. Ann Genet 1980;23:60-2.
7. Kline AD, White ME, Wapner R, cl al. Molecular analysis of the 18q- syndrome and correlation with phenotype. Am J Hum Genet 1993;52:895-906.
8. Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V. A new deletion of 18q23 with few typical features of the 18q- syndrome. J Mcd Genet 1996;33:240-3.
9. Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, omphalocoele, hyperplasia of the kidneys and pancreas and Leydig cell hyperplasia - another syndrome? Presented at the Annual Meeting of Western Society for Pédiatrie Research, Los Angeles, California, 21 November 1963.
10. VC'iedemann HR. Complexe malformatif familial avec hernie ombilicale et macroglossie - un "syndrome nouveau?" J Genêt Hum 1964;13:232-3.
11. Elliott M, Mäher ER. BeckwithAViedemann syndrome. J Med Genet 1991;31:560-4.
12. Viljoen D, Ramesar R. Evidence for parental imprinting in familial Beckwith-Wiedemann syndrome. J filed Genet 1992;29:221-5.
13. Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP. Genetic linkage of Beckwith-Wiedemann syndrome to c5.AmJHum Genet 1989;44:720-3.
14. Schneid H, Seurin D, Vazquez MP, Gourmelen M, Cabrol S, Le Bouc Y. Parental allele specific methylation of the human insulin-like growth factor II gene and BeckwithWiedemann syndrome. JMcd Genet 1993;30:353-62.
15. Henry I, Bonaiti-Pellie C, Chehensse V, et al. Uniparental paternal disomy in a cancer-predisposing syndrome. Nature 1991;351:665-7.
16. Slatter RE, Elliot! M, Welham K, et al. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J filed Genet 1994;31:749-53.
17. Joyce J, Lam WWK, Catchpoole D, Mäher ER, Schofield PN. Lack of reciprocity of imprinting of H19 and IGF2. Hum Mol Genet (in press).
18. Hatada I, Ohashi H, Fukushima Y, et a!. An imprinted gene p57K"'" js mutated jn BeckwithAViedemann syndrome. Nat Genet 1996,14:171-3.
19. Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Mäher ER. Alleleic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. Hum Mol Genet 1994;3: 1297-301.
20. Catchpoole D, Lam WWK, Valler D, et ai. Epigenetic modification and uniparental inheritance of H19 in BeckwithWiedemann syndrome. JMed Genet 1997;34:353-9.
21. Reik W, Feil R, Nicholas D, Moore N, Walter J. Imprinted genes, alleleic methylation and imprinted modifiers of methylation. In: Genomie imprinting: courses and consequences. Cambridge: Cambridge University Press, 1995: 157-69.
22. Jones C, Slijepcevic P, Marsh S, c( ai. Physical linkage of the fragile site FKA1 IB and a Jacobsen syndrome chromosome deletion breakpoint in Ilq23.3. Hum Mol Genet 1994;3: 2123-30.