| Literature DB >> 24753445 |
Nelli Vanhapiha1, Sakari Knuutila, Kim Vettenranta, Olli Lohi.
Abstract
Williams syndrome (WS) is a relatively rare multisystem neurodevelopmental disorder caused by a hemizygous deletion of contiguous genes on chromosome 7q11.23. Although WS does not predispose carriers to cancers, alterations of chromosome 7 are common in several human neoplasms. We report here a patient with WS and two different cancers, Burkitt lymphoma and Ewing sarcoma. Array-CGH analysis of the patient blood revealed a constitutive 1.4 million base pair deletion at 7q11.23, compatible with WS diagnosis.Entities:
Keywords: Burkitt lymphoma; Ewing sarcoma; Williams syndrome; chromosomal translocation
Mesh:
Year: 2014 PMID: 24753445 DOI: 10.1002/pbc.25055
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN: 1545-5009 Impact factor: 3.167