| Literature DB >> 18076104 |
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.Entities:
Mesh:
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