Abstract
Since this book is about deviations of CG-CNVs from the norm, here the norm is defined for heterochromatic and euchromatic CG-CNVs. Heterochromatic CG-CNVs include the short arms of the acrocentric chromosomes, the centromeric regions, and the regions 1q12, 9q12, 16q11.2, and Yq12. The norm for euchromatic CG-CNVs simply is the normal GTG banding pattern of all 24 human chromosomes. Things are more complicated for heterochromatic CG-CNVs, as outlined here. Also separately treated are gonosomal euchromatin and small supernumerary marker chromosomes (sSMC), euchromatic variants (EVs), and unbalanced chromosomal abnormalities (UBCAs) without clinical consequences.
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