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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Micro Deletion Result-STS Gene

4 replies

PolaroidPrincess · 27/10/2024 19:45

DC1 has just received his results and he does have the micro deletion as expected but very helpfully they've never seen that particular micro deletion before so we're not much further.

They think that's what's caused his ADHD and skin issues but obviously, they're just guessing.

Anyone else ever had an unexpected result like this?

OP posts:
PolaroidPrincess · 23/12/2024 14:38

Anyone?

OP posts:
PolaroidPrincess · 01/03/2025 10:32

Just one more hopeful bump.

OP posts:
Btowngirl · 22/09/2025 14:33

Hi Op, not sure if you are still around? We had a diagnosis for our DD of a deletion back in November 24. We saw guys and St Thomas clinical generics a few months ago and they basically said they have no one on their books with the same deletion. They did say that with genetics it’s presents differently for most children anyway so it may or may not have brought us any additional information..

SleafordSods · 01/11/2025 10:28

Sounds very similar to our result. How is your DD doing?

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