Literature DB >> 6854451

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome.

M Waziri, S R Patil, J W Hanson, J A Bartley.   

Abstract

Two unrelated children with features of Beckwith-Wiedemann syndrome have been found to have partial duplication of chromosome 11p. A review of six other reported cases of partial duplication of 11 p revealed features of this syndrome not previously recognized. We suggest that karyotype studies with banding techniques should be done in children with features of Beckwith-Wiedemann syndrome and developmental delay or retardation.

Entities:  

Mesh：

Year:  1983        PMID： 6854451     DOI： 10.1016/s0022-3476(83)80014-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  51 in total

1.  Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.

Authors:  M P Lee; M DeBaun; G Randhawa; B A Reichard; S J Elledge; A P Feinberg
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

2.  CpG island clones for chromosome 11p--a resource for mapping and gene identification.

Authors:  C Thäte; J Pongratz; A König; B Klamt; S Tsaoussidou; M Higgins; T Shows; C Jones; M Gessler
Journal:  Mamm Genome       Date:  1995-06       Impact factor: 2.957

3.  Genomic imprinting and the Beckwith-Wiedemann syndrome.

Authors:  K W Brown; J C Williams; N J Maitland; M G Mott
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

4.  Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11.

Authors:  H J Scrable; D K Johnson; E M Rinchik; W K Cavenee
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

5.  Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.

Authors:  C Moutou; C Junien; I Henry; C Bonaïti-Pellié
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

6.  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 7.  Overgrowth Syndrome.

Authors:  Yahan Li; Callum G Donnelly; Rocío Melissa Rivera
Journal:  Vet Clin North Am Food Anim Pract       Date:  2019-07       Impact factor: 3.357

8.  Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).

Authors:  N Tommerup; C A Brandt; S Pedersen; L Bolund; J Kamper
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

9.  Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.

Authors:  R A Spritz; D Mager; R M Pauli; R Laxova
Journal:  Am J Hum Genet       Date:  1986-08       Impact factor: 11.025

10.  Molecular analysis of patients with Wiedemann-Beckwith syndrome. I. Gene dosage on the short arm of chromosome 11.

Authors:  A Nyström; W Engström; J Cheetham; P N Schofield
Journal:  Eur J Pediatr       Date:  1992-07       Impact factor: 3.183
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