title: Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.
abstract: A boy suffering from the Beckwith-Wiedemann syndrome (BWS) was found to have partial trisomy of the short arm of chromosome 11 [46,XY,der(5)t(5;11)(p15.2;p14)]. Both his parents were phenotypically normal, but his father carried a balanced translocation between chromosomes 5 and 11 [46,XY,t(5;11)(p15.2;p14)]. DNA analysis of polymorphic markers on 11p15 confirmed the paternal origin of the duplicated material in the child. This case is the sixth report of paternal duplication of 11p15 in BWS. These results are discussed in relation to the possible role of genomic imprinting in BWS and in Wilms' tumor.
authors.affiliation: CLIC Research Unit, Department of Pathology, School of Medical Sciences, Bristol, U.K.
authors.forename: K W
authors.initials: KW
authors.lastname: Brown
authors.forename: A
authors.initials: A
authors.lastname: Gardner
authors.forename: J C
authors.initials: JC
authors.lastname: Williams
authors.forename: M G
authors.initials: MG
authors.lastname: Mott
authors.forename: A
authors.initials: A
authors.lastname: McDermott
authors.forename: N J
authors.initials: NJ
authors.lastname: Maitland
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy