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Multiple hemangiomas in a patient with a t(3q;4p) translocation: An infrequent association with Wolf–Hirschhorn syndrome
Author(s) -
Pardo Sherly,
Blitman Netta,
Han Bokyung,
Cohen Ninette,
Edelmann Lisa,
Hirschhorn Kurt
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32033
Subject(s) - chromosomal translocation , gene duplication , chromosome , chromosome 4 , medicine , genetics , biology , gene
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. © 2007 Wiley‐Liss, Inc.