Literature DB >> 1728953

Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.

K W Brown1, A Gardner, J C Williams, M G Mott, A McDermott, N J Maitland.   

Abstract

A boy suffering from the Beckwith-Wiedemann syndrome (BWS) was found to have partial trisomy of the short arm of chromosome 11 [46,XY,der(5)t(5;11)(p15.2;p14)]. Both his parents were phenotypically normal, but his father carried a balanced translocation between chromosomes 5 and 11 [46,XY,t(5;11)(p15.2;p14)]. DNA analysis of polymorphic markers on 11p15 confirmed the paternal origin of the duplicated material in the child. This case is the sixth report of paternal duplication of 11p15 in BWS. These results are discussed in relation to the possible role of genomic imprinting in BWS and in Wilms' tumor.

Entities:  

Mesh：

Year:  1992        PMID： 1728953     DOI： 10.1016/0165-4608(92)90136-v

Source DB:  PubMed          Journal:  Cancer Genet Cytogenet        ISSN： 0165-4608


  12 in total

1.  Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

Authors:  S Russo; P Finelli; M P Recalcati; S Ferraiuolo; F Cogliati; B Dalla Bernardina; M G Tibiletti; M Agosti; M Sala; M T Bonati; L Larizza
Journal:  J Med Genet       Date:  2006-08       Impact factor: 6.318

Review 2.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 3.  Genomic imprinting: mechanism and role in human pathology.

Authors:  B Tycko
Journal:  Am J Pathol       Date:  1994-03       Impact factor: 4.307

Review 4.  Beckwith-Wiedemann syndrome.

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

5.  Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Authors:  W W Lam; I Hatada; S Ohishi; T Mukai; J A Joyce; T R Cole; D Donnai; W Reik; P N Schofield; E R Maher
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

6.  Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Authors:  D Catchpoole; W W Lam; D Valler; I K Temple; J A Joyce; W Reik; P N Schofield; E R Maher
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

7.  Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.

Authors:  J Eggenschwiler; T Ludwig; P Fisher; P A Leighton; S M Tilghman; A Efstratiadis
Journal:  Genes Dev       Date:  1997-12-01       Impact factor: 11.361

8.  A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci.

Authors:  C W Richard; M Boehnke; D J Berg; J H Lichy; T C Meeker; E Hauser; R M Myers; D R Cox
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

9.  The 11p15.5 ribonucleotide reductase M1 subunit locus is not imprinted in Wilms' tumour and hepatoblastoma.

Authors:  J A Byrne; P J Smith
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

10.  Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

Authors:  R E Slatter; M Elliott; K Welham; M Carrera; P N Schofield; D E Barton; E R Maher
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.