Введение. Спорадическая ретинобластома развивается в результате мутаций de novo обоих аллелях гена RB1 клетках сетчатки глаза. При спорадической ретинобластоме первоначальная мутация гене нередко является мозаичной, то есть образуется постзиготической ранней эмбриональной клетке, что приводит к неравномерному распределению мутантных клонов между различными тканями организма. Возможность идентиф...

Abstract Study question How does calling mosaicism for a higher threshold affect euploidy, the chance of finding at least one euploid embryo and clinical pregnancy? Summary answer Increasing significantly increased euploidy percentage probability embryo, as expected, but also pregnancy outcomes. What is known already NGS technology has shed light on occurrence chromosomal preimplantation stage ...

Fanconi anemia (FA) is characterized by chromosome fragility, bone marrow failure (BMF) and predisposition to cancer. As reverse genetic mosaicism has been described as “natural gene therapy” in patients with FA, we sought evaluate the clinical course of a cohort FA mosaic followed at referral centers Spain over 30-year period. This includes majority T cells without chromosomal aberrations DEB-...