| Literature DB >> 8471219 |
J P Fryns1, A Kleczkowska, K Devriendt, H Devliegher, H Van den Berghe.
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.Entities:
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Year: 1993 PMID： 8471219
Source DB: PubMed Journal: Genet Couns ISSN： 1015-8146