Poradnictwo genetyczne w zespole Beckwitha-Wiedemanna. Część II. Oszacowanie prawdopodobieństwa powtórzenia się BWS i prognoza genetyczna

Beckwith-Wiedemann syndrome (BWS) (OMIM # 130650) is a disorder resulting from mutations or epigenetic events involving imprinted genes at chromosome region 11p15.5. Families in which BWS syndrome is diagnosed should be carried by genetic counselling. The indispensable literature necessary for the multistep genetic counselling for BWS syndrome has been reviewed. The genetic counselling consists of the estimation of probability rate of BWS recurrence in progeny, the prognosis of developmental abilities of the child, determine the cancer and sterility risk and discuss possibilities for prenatal diagnosis.