Andrey V Marakhonov, Tatyana A Vasilyeva, Marina E Minzhenkova, Natella V Sukhanova, Peter A Sparber, Natalya A Andreeva, Margarita V Teleshova, Fatima K-M Baybagisova, Nadezhda V Shilova, Sergey I Kutsev, Rena A Zinchenko
Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing surgery (NSS) for Wilms tumor with nephroblastomatosis was carried out. The patient also had eye affection, including glaucoma, eye enlargement, megalocornea, severe corneal swelling and opacity, complete aniridia, and nystagmus. The diagnosis of WAGR syndrome was suspected. De novo complex chromosomal rearrangement with balanced translocation t(10,11)(p15;p13) and a pericentric inversion inv(11)(p13q12), accompanied by two adjacent 11p14...
November 29, 2023: International Journal of Molecular Sciences