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

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.

Genetics of Hemangiomas, Vascular Malformations, and Primary Lymphedema

“…[40][41][42][43][44] Each of these was only a single case report. One syndromic patient with an unbalanced translocation involving 3q26.1 had multiple hemangiomas.…”

Inflammatory Myofibroblastic Bladder Tumor in a Patient with Wolf-Hirschhorn Syndrome

“…It is possible that one or more of the protein encoded by this genes may play a role in the development of neoplastic lesions. An adult patient with BCR/ABL negative myeloproliferative syndrome had a t(4;14)(p16;q24) translocation; in several studies, translocations involving the WHSC-1 gene have been associated with multiple myeloma [15, 16]. Cytogenetic studies in these patients lend to support the hypothesis that a number of genes potentially relevant to tumorogenesis map to chromosome 4p16.…”

“…About 87% of cases represent a de novo deletion, usually on the paternal chromosome, while about 13% are inherited from a parent with a chromosome translocation. Severity of symptoms and expressed phenotype are based on the amount of genetic material deleted that always include two minimal critical regions for WHS (WHSCR-1 and -2) [15, 16]. Our patient presented typical phenotypic characteristics with associated bilateral congenital cataract and right renal pyelectasis.…”