Article
Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1993
Fryns J P, Kleczkowska A, Devriendt K, Devliegher H, Van den Berghe H
Abstract excerpt
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...
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