Breakdown of genetic results

[Marie-2004]

Hi all

My son was born in Dec 2015 and diagnosed in February with BWS. I have seen a number of mention about sub groups of the BWS genetic diagnoses. Can you give me more details on what these sub groups are. I have requested further details on his genetic results and what he is more subseptible to...however I don't seem to be getting anywhere.

Also can I ask if they are more subseptible to the overgrowth does that automatically make them less subseptible to the chance of tumours.

Any information would be appreciated, even if I knew what I should be asking for that would be helpful.

Thanks a mill for your help.

[charlilriley]

I cant tell you much and i am too struggling to get answers! I do know that those with hemi-hypertrophy are at a slightly increased risk of the evil 'C' but i dont know a lot else sorry, is your son 'very large' ?

[Marie-2004 in reply to charlilriley]

Hi charlilriley ..thanks for your response ...he's big but not excessively so. He is definitely bigger than my other kids at his age & a bit heavier..he's 22lbs at 29 weeks & we get comments from people who don't know saying he's a big buster. Would love to get clarity on his genetics though.

[Songbird63 Administrator BWS Support]

If you take a look at our website bws-support.org.uk you will find a detailed explanation of the different genetic subgroups in BWS, and which ones are at increased risk of tumours.

It's listed under the what is BWS page. Hope it helps. Come back and ask if you need more info.

[Marie-2004 in reply to Songbird63]

Thank you Songbird63 thats a great reference point to have.

[BobBaker Administrator BWS Support]

You really need the results of the genetic test to tell which sub group your son belongs to though be aware that around 20% of tests do not show up a sub group. The five groups are:

KvDMR hypomethylation (about 50% of the causes of BWS)

Paternal uniparental disomy 11p15 (about 20%)

H19 hypomethylation (5%)

CDKN1C mutation (5%).

About 20% of the BWS children have no detectable molecular cause.

The information sheet on BWS from Great Ormond Street Hospital reports that Wilms tumour has never been reported in children with BWS caused by KvDMR hypomethylation.

Sorry that this is technical and it's the reason why you need to speak to a medical professional who specialises in genetics.

Bob Baker

BWS Support Group UK

[Marie-2004 in reply to BobBaker]

Thank you BobBaker that is really helpful.