Literature DB >> 9507400

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

C M Brewer1, W W Lam, C Hayward, E Grace, E R Maher, D R FitzPatrick.   

Abstract

Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.

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Year:  1998        PMID： 9507400      PMCID： PMC1051225          DOI： 10.1136/jmg.35.2.162

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  17 in total

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Authors:  H R WIEDEMANN
Journal:  J Genet Hum       Date:  1964-09

2.  Neurologic manifestations in 18q- syndrome.

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Journal:  Am J Med Genet       Date:  1990-09

3.  Contribution to the 18q- syndrome. A patient with del(18) (q22.3qter).

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Journal:  Clin Genet       Date:  1987-04       Impact factor: 4.438

4.  Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Authors:  D Viljoen; R Ramesar
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 5.  Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Authors:  A D Kline; M E White; R Wapner; K Rojas; L G Biesecker; J Kamholz; E H Zackai; M Muenke; C I Scott; J Overhauser
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

Review 6.  Beckwith-Wiedemann syndrome.

Authors:  M Elliott; E R Maher
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

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Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

8.  Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome.

Authors:  H Schneid; D Seurin; M P Vazquez; M Gourmelen; S Cabrol; Y Le Bouc
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

9.  Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.

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Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

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  3 in total

1.  FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.

Authors:  Kim Debacker; Birgitta Winnepenninckx; Neta Ben-Porat; David FitzPatrick; Rob Van Luijk; Stefaan Scheers; Batsheva Kerem; R Frank Kooy
Journal:  J Med Genet       Date:  2007-05       Impact factor: 6.318

2.  Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.

Authors:  Hanan H Afifi; Ghada Y El-Kamah; Alaa K Kamel; Sally G Abd Allah; Sayda Hammad; Mohammed M Sayed-Ahmed; Shymaa H Hussein; Amal M Mohamed
Journal:  J Pediatr Genet       Date:  2020-04-21

Review 3.  Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Authors:  Thomas Eggermann; Frédéric Brioude; Silvia Russo; Maria P Lombardi; Jet Bliek; Eamonn R Maher; Lidia Larizza; Dirk Prawitt; Irène Netchine; Marie Gonzales; Karen Grønskov; Zeynep Tümer; David Monk; Marcel Mannens; Krystyna Chrzanowska; Malgorzata K Walasek; Matthias Begemann; Lukas Soellner; Katja Eggermann; Jair Tenorio; Julián Nevado; Gudrun E Moore; Deborah Jg Mackay; Karen Temple; Gabriele Gillessen-Kaesbach; Tsutomu Ogata; Rosanna Weksberg; Elizabeth Algar; Pablo Lapunzina
Journal:  Eur J Hum Genet       Date:  2015-10-28       Impact factor: 4.246
  3 in total

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