Poradnictwo genetyczne w zespole Beckwitha-Wiedemanna. Część I. Diagnoza fenotypowa i genetyczna

Beckwith-Wiedemann syndrome is characterized by a basal triad of a cardinal features such as: exomphalos, macroglossia and gigantismas a result of variety of (epi)genetic abnormalities involving the short arm of chromosome 11, which may be subject to genomic imprinting. In our work an establishment of clinical diagnosis and genetic tests used for the verification of diagnosis is giving as a part of genetic counseling process offered for BWS children's families.