Triple X Syndrome

[fishcake1279]

I'm 40 years old and had a NIFTY test done to determine Down's Syndrome. The result came back negative for that, but positive for Triple X Syndrome (quite a rare disorder, it seems). I have three boys already, aged ten, nine and six. I'm 16 weeks pregnant and due to see a specialist soon, but feeling pretty low. Anyone with experience of Triple X, can you advise? Thank you!

[jnl0612]

Dd1's friends brother has this syndrome.
From what I've been told by his dm the symptoms vary according to how severe. Unfortunately he does have it severe and is double incontinent, suffers from ADHD type symptoms, very aggressive, has a very early mental age (around 8 and he's 16)
I think as well fragile x children have a particular face shape (long if I remember rightly)

[jnl0612]

Actually ignore that
It's fragile x he's got not triple x
Pregnancy hormones making me read something different

[OddBoots]

Oh, that must have been a shock for you.

There is no point in telling you not to worry because you will worry but I imagine you have done some research so know that many women with it aren't diagnosed because any symptoms they may have are too mild for tests to be triggered.

The way the female sex chromosomes work in females is that in each cell only one is fully active, the other is almost entirely closed down epigenetically (known as a Barr body). With triple X there will be cells with one X shut down and cells with two shut down, it depends how many of each there are as to how many symptoms a person has.

I don't hope the consultant is able to give you all the information you need.

(I have no direct experience, I just study epigenetics)

[fishcake1279]

Thanks, jnl0612. Yes, Triple X only occurs in girls: it's an extra X chromosome to their already double X.

[fishcake1279]

Thanks, OldBoots. Any reassurance gratefully received. I'm a little at sea, as you can imagine.

[cookielove]

I was diagnosed with triple x syndrome last year, any questions just ask.

[Kahpow]

Hi there,

My nephew has Fragile X and my dad, myself and my sister are all 'pre-mutation' for it. We didn't realise until my nephew was diagnosed, and then his parents were tested and the tests filtered to other members in the family.

Dealing with a vomiting baby right now but I'll come back asap.

[Kahpow]

Ignore that, I just saw jnl's reference to FX and didn't read properly! I hope you're ok regardless.

[Mum735224]

Hey, not sure if anyone replies to this as the thread is so old, but my 6 month old daughter has just been diagnosed with Triple X syndrome too.