title: Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
abstract: In this report we present a female newborn with Wiedemann-Beckwith syndrome and duplication 4q/deficiency 18p as the result of an unbalanced paternal 4q/18p translocation: karyotype: 46,XY,t(4;18)(q34.2;p11.32). The different mechanisms resulting in prenatal overgrowth and Wiedemann-Beckwith syndrome phenotype are reviewed. The suggestion is made that contiguous gene duplications/deletions other than those located in the 11p15 region may exist.
authors: Centre for Human Genetics, University of Leuven, Belgium.
authors: J P
authors: JP
authors: Fryns
authors: A
authors: A
authors: Kleczkowska
authors: K
authors: K
authors: Devriendt
authors: H
authors: H
authors: Devliegher
authors: H
authors: H
authors: Van den Berghe
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype