Intellectual disability and epilepsy due to the K/L ‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype

We report two additional families possessing the K/L‐mediated Xq28 duplication with affected males having intellectual disability and epilepsy similar to the previously reported phenotype. To our knowledge, this is the second cohort of individuals to be reported with this duplication and therefore supports K/L‐mediated Xq28 duplications as a distinct syndrome.

Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: David Isum Ward, Bethany A. Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean Hofherr, Amy Feldman Lewanda Tags: NEW SYNDROME Source Type: research