Literature DB >> 18076104

Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.

Sherly Pardo1, Netta Blitman, Bokyung Han, Ninette Cohen, Lisa Edelmann, Kurt Hirschhorn.   

Abstract

We report on the clinical phenotype of an infant with a duplication of the terminal portion of the long arm of chromosome 3(q26.3-qter) and a deletion of the terminal portion of the short arm of chromosome 4(p16.3) with multiple hemangiomas and a hamartoma. Patients with deletions of distal 4p have the characteristic features of Wolf-Hirschhorn syndrome (WHS); whereas those with the distal duplication of 3q have a well recognized syndrome with some features resembling Cornelia-de Lange syndrome (CdLS). Neither of these recognized chromosomal anomalies has been reported previously to be associated with multiple hemangiomas or other vascular malformations. (c) 2007 Wiley-Liss, Inc.

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Year:  2008        PMID: 18076104     DOI: 10.1002/ajmg.a.32033

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  1 in total

1.  Inflammatory myofibroblastic bladder tumor in a patient with wolf-hirschhorn syndrome.

Authors:  Antonio Marte; Paolo Indolfi; Carmine Ficociello; Daniela Russo; Matilde Oreste; Gaetano Bottigliero; Giovanna Gualdiero; Ciro Barone; Elena Vigliar; Cristiana Indolfi; Fiorina Casale
Journal:  Case Rep Urol       Date:  2013-08-18
  1 in total

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