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

Am J Med Genet A. 2008 Jan 15;146A(2):219-24. doi: 10.1002/ajmg.a.32033.

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.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 4*
  • Hemangioma / diagnosis*
  • Hemangioma / genetics*
  • Humans
  • Infant
  • Male
  • Translocation, Genetic*
  • Trisomy
  • Wolf-Hirschhorn Syndrome / diagnosis*
  • Wolf-Hirschhorn Syndrome / genetics