Literature DB >> 8585570

Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.

A J Whelan1, M S Watson, F D Porter, R D Steiner.   

Abstract

We report on a case of Klippel-Trenaunay Weber syndrome (KTWS) associated with a reciprocal translocation [46,XX,t (5;11) (q13.3;p15.1)]. The patient has developmental delay and minor anomalies in addition to classic findings of KTWS. These data support the notion that Klippel-Trenaunay-Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel-Trenaunay-Weber gene(s) to 5q or 11p.

Entities:  

Mesh：

Year:  1995        PMID： 8585570     DOI： 10.1002/ajmg.1320590416

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  20 in total

1.  Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.

Authors:  N Revencu; L M Boon; A Dompmartin; P Rieu; W L Busch; J Dubois; F Forzano; J M van Hagen; S Halbach; A Kuechler; A M A Lachmeijer; J Lähde; L Russell; K O J Simola; J B Mulliken; M Vikkula
Journal:  Mol Syndromol       Date:  2013-04-11

2.  A review of vascular anomalies: genetics and common syndromes.

Authors:  Elizabeth Killion; Kriti Mohan; Edward I Lee
Journal:  Semin Plast Surg       Date:  2014-05       Impact factor: 2.314

Review 3.  Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.

Authors:  A A Timur; D J Driscoll; Q Wang
Journal:  Cell Mol Life Sci       Date:  2005-07       Impact factor: 9.261

4.  Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Authors:  Aggeliki Dimopoulos; Robert J Sicko; Denise M Kay; Shannon L Rigler; Ruzong Fan; Paul A Romitti; Marilyn L Browne; Charlotte M Druschel; Michele Caggana; Lawrence C Brody; James L Mills
Journal:  Am J Med Genet A       Date:  2016-11-30       Impact factor: 2.802

5.  Klippel-Trenaunay syndrome.

Authors:  S Sethi; B S Shubha
Journal:  Indian J Pediatr       Date:  2001-08       Impact factor: 1.967

Review 6.  Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases.

Authors:  M Rohany; A Shaibani; O Arafat; M T Walker; E J Russell; H H Batjer; C C Getch
Journal:  AJNR Am J Neuroradiol       Date:  2007-03       Impact factor: 3.825

7.  Conus medullaris spinal arteriovenous malformation in a patient with klippel-trenaunay-weber syndrome. A case report and review of the literature.

Authors:  Y Iizuka; M Suzuki; S Komura; T Takada; K Shimoji
Journal:  Interv Neuroradiol       Date:  2008-06-30       Impact factor: 1.610

8.  Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program.

Authors:  Y Hu; L Li; S B Seidelmann; A A Timur; P H Shen; D J Driscoll; Q K Wang
Journal:  Ann Hum Genet       Date:  2008-06-16       Impact factor: 1.670

9.  Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.

Authors:  M P Sperandeo; P Ungaro; M Vernucci; P V Pedone; F Cerrato; L Perone; S Casola; M V Cubellis; C B Bruni; G Andria; G Sebastio; A Riccio
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

10.  Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.

Authors:  Xiao-Li Tian; Rajkumar Kadaba; Sun-Ah You; Mugen Liu; Ayse Anil Timur; Lin Yang; Qiuyun Chen; Przemyslaw Szafranski; Shaoqi Rao; Ling Wu; David E Housman; Paul E DiCorleto; David J Driscoll; Julian Borrow; Qing Wang
Journal:  Nature       Date:  2004-02-12       Impact factor: 49.962
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.