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  • Title: Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
    Author: Fryns JP, Kleczkowska A, Devriendt K, Devliegher H, Van den Berghe H.
    Journal: Genet Couns; 1993; 4(1):37-41. PubMed ID: 8471219.
    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.
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