What does loss of methylation of KvDMR mean?

[vickic]

Hi, my 8 month old was diagnosed yesterday with BWS, although we have suspected it for a while. What does loss of methylation of KvDMR mean? Can anyone shed any light, I am awaiting my appointment with my genetic specialist but if anyone could help in the meantime that would be great.

Thank you

[bwsmum]

That is terms used for the particular way he has BWS. The geneticist will be able to explain at all more. X my son has it this way also x

[daisyduck BWS Support]

This is the most common and mildest form of BWS and lowest risk for tumours.

The below link explains the genetics well.

ghr.nlm.nih.gov/condition/b...

[vickic in reply to daisyduck]

Thank you