The two year old proband has multiple malformations and severe developmental delay. Her karyotype is 46, XY, -9, +rec(9), dup p, inv(9)(q22.1q34.3)mat, with a net duplication of 9pter←q22.1 and ...
The epigenetic state of chromatin, gene activity, and chromosomal positions are interrelated. A research team from the IPK Leibniz Institute (IPK) and the Karlsruhe Institute of Technology (KIT) has ...