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

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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish
Pages (from-to)219-224
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number2
DOIs
StatePublished - 15 Jan 2008

Keywords

  • Duplication 3q syndrome
  • Hamartoma
  • Hemangioma
  • Wolf-Hirschhorn syndrome

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