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Fryns JP, Kleczkowska A, Devriendt K, et al. Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. Genet Couns. 1993;4(1):37-41
Fryns, J. P., Kleczkowska, A., Devriendt, K., Devliegher, H., & Van den Berghe, H. (1993). Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. Genetic counseling (Geneva, Switzerland), 4(1), 37-41.
Fryns, J P, et al. "Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p." Genetic counseling (Geneva, Switzerland) vol. 4,1 (1993): 37-41.
Fryns JP, Kleczkowska A, Devriendt K, Devliegher H, Van den Berghe H. Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. Genet Couns. 1993;4(1):37-41. PMID: 8471219.
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Genet Couns. 1993;4(1):37-41.

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

Genetic counseling (Geneva, Switzerland)

J P Fryns, A Kleczkowska, K Devriendt, H Devliegher, H Van den Berghe

Affiliations

  1. Centre for Human Genetics, University of Leuven, Belgium.

PMID: 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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