A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication...

Source: Molecular Cytogenetics - June 14, 2019 Category: Molecular Biology Authors: Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani and Antonio Novelli Tags: Case Report Source Type: research