Do you know the genetic cause of BWS in your case?

[daisyduck]

This document explains the genetics in a simple way.

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

[daisyduck BWS Support]

My daughter has UPD.

[ShortAndStout]

My son has loss of methylation at KvDMR

[Songbird63 Administrator BWS Support]

No known, test wasnt available when son was diagnosed

[familyfour]

my son has hypomethylation at KvDMR

[kellybear]

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.

[Disney-mum]

My daughter has hypermethylation (gain of methylation) at h19 (maternal copy is silenced) this is the high tumour risk type.

[Webber8727]

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