A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
Tatyana A VasilyevaAndrey A MarakhonovMarina E MinzhenkovaZhanna G MarkovaNika V PetrovaNatella V SukhanovaPhilipp A KoshkinDenis V PyankovIlya V KanivetsSergey A KorostelevIrina A KrynskayaNadezhda V ShilovaSergey I KutsevVitaly V KadyshevRena A ZinchenkoPublished in: BMC medical genomics (2020)
We confirmed the diagnosis of congenital aniridia at the molecular level. For the patient, the risk of developing Wilms' tumor is similar to that in the general population. The recurrence risk for sibs in the family is low, but considering the possibility of gonadal mosaicism, it is higher than in the general population.