This document explains the genetics in a simple way.
My daughter has UPD.
My son has loss of methylation at KvDMR
No known, test wasnt available when son was diagnosed
my son has hypomethylation at KvDMR
My daughter's is due to methylation, but the methylation occurred as she is an 'identical' twin. Her Genetics Consultant advised that it happened when they split into two.
My daughter has hypermethylation (gain of methylation) at h19 (maternal copy is silenced) this is the high tumour risk type.
Hi my son has had genetic testing which came back negative does this mean hes not inna subgroup.at risk for tumours we are seeing genetics tommorow