Multiple hemangiomas in a patient with a t(3q;4p) translocation: An infrequent association with Wolf–Hirschhorn syndromeS Pardo and N Blitman contributed equally to this work.How to cite this article: Pardo S, Blitman N, Han B, Cohen N, Edelmann L, Hirschhorn K. 2007. Multiple hemangiomas in a patient with a t(3q;4p) translocation: An infrequent association with Wolf–Hirschhorn syndrome. Am J Med Genet Part A 146A:219–224.

Autor: Pardo, Sherly, Blitman, Netta, Han, Bokyung, Cohen, Ninette, Edelmann, Lisa, Hirschhorn, Kurt
Zdroj: American Journal of Medical Genetics. Part A; January 2008, Vol. 146 Issue: 2 p219-224, 6p
Abstrakt: 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. © 2007 Wiley‐Liss, Inc.
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