Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome: A new case and review of the literature

Keith W Brown, A Gardner, JC Williams, Martin G Mott, A Mcdermott, Norman J Maitland

Research output: Contribution to journalArticle (Academic Journal)peer-review

35 Citations (Scopus)

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.
Translated title of the contributionPaternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature
Original languageEnglish
Pages (from-to)66-70
Number of pages4
JournalCancer Genetics and Cytogenetics
Volume58
Issue number1
DOIs
Publication statusPublished - Jan 1992

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