Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
Katja Kobow, Samir Jabari, Tom Pieper, Manfred Kudernatsch, Tilman Polster, Friedrich G. Woermann, Thilo Kalbhenn, Hajo M. Hamer, Karl Rössler, Angelika Mühlebner, Wim G.M. Spliet, Martha Feucht, Yanghao Hou, Damian Stichel, Andrey Korshunov, , Andreas von Deimling
The paper identifies a chromosomal duplication of chromosome 1q in a subset of polymicrogyria patients, associated with specific clinical features and distinct DNA methylation patterns.
Acta Neuropathologica · Sep 26, 2020Peer-reviewedNeuroscience