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Title: Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p
Authors: Fryns, Jean-Pierre ×
Kleczkowska, Alicja
Devriendt, Koenraad
Devlieger, Hugo
Van den Berghe, Herman #
Issue Date: May-1993
Series Title: Genetic Counseling vol:4 issue:1 pages:37-41
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.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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