Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome |
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Authors: | Pardo Sherly Blitman Netta Han Bokyung Cohen Ninette Edelmann Lisa Hirschhorn Kurt |
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Institution: | Genetic & Genomic Sciences, Mount Sinai Medical Center, New York, New York 10029, USA. sherly.pardo@mssm.edu |
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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. |
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