Literature DB >> 3780031

Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome.

S M Schmutz.   

Abstract

Four cases of duplication of a segment of 11p have been reported in patients with Beckwith-Wiedemann syndrome (Waziri et al. 1983, Turleau et al. 1984). We describe a patient with Beckwith-Wiedemann syndrome who has a deletion of chromosome 11(p11p13) and suggest involvement of this chromosomal region in both the duplicated and deleted states such as occurs in Prader-Willi syndrome.

Entities:  

Mesh：

Year:  1986        PMID： 3780031     DOI： 10.1111/j.1399-0004.1986.tb00588.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

1.  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 2.  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

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

4.  Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).

Authors:  H Sato; K Takaya; S Nihira; H Fujita
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

5.  Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

Authors:  A Koufos; P Grundy; K Morgan; K A Aleck; T Hadro; B C Lampkin; A Kalbakji; W K Cavenee
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

Review 6.  Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Authors:  A Slavotinek; L Gaunt; D Donnai
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

7.  Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

Authors:  A J Ping; A E Reeve; D J Law; M R Young; M Boehnke; A P Feinberg
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.