Genet Couns. 1993;4(1):37-41.

Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.

Fryns JP, Kleczkowska A, Devriendt K, Devliegher H, Van den Berghe H.

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Centre for Human Genetics, University of Leuven, Belgium.

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.

PMID:: 8471219; [PubMed - indexed for MEDLINE]

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