title: Burkitt lymphoma and Ewing sarcoma in a child with Williams syndrome.
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.
authors.affiliation: Tampere Center for Child Health Research, University of Tampere Medical School and Tampere University Hospital, Tampere, Finland.
authors.forename: Nelli
authors.initials: N
authors.lastname: Vanhapiha
authors.forename: Sakari
authors.initials: S
authors.lastname: Knuutila
authors.forename: Kim
authors.initials: K
authors.lastname: Vettenranta
authors.forename: Olli
authors.initials: O
authors.lastname: Lohi
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002051:Burkitt Lymphoma / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012512:Sarcoma, Ewing / Q000235:genetics*; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics*
keywords: Burkitt lymphoma; Ewing sarcoma; Williams syndrome; chromosomal translocation