Genetic testing- slight abnormality of X chromosone

[starsintheireyes]

just had sons blood results back and there is a slight abnormality with his X chromosone, it says in the letter this abnormality is not known to cause any specific problems but theyve asked myself and ds's dad to have bloods done aswell to determin if this is passed down or if its a new abnormality of the X in ds.

Anyone had any experience of this??

Sounds like they're wondering if it's a type of fragile x or just a blip.

What else did they say, do you think 'Small abnormality... Not known to cause any specific problems' is a hint for 'we've no idea' or for 'irrelevant genetic blip'?

When will you be getting proper feedback?

I not sure, I dont understand why theyre testing us if theyre thinking its an irrelevant blip. I spoke to the consultants secretary as he was unavailable but I may trying ringing again and ask what theyre thinking.

Hi - sorry for your worries. If you have the same 'familal' variant then they will conclude it's not the cause for your sons 'problems' (I don't know if there are any, but presumably so). If it is not inherited it might be the cause of problems. There are micro deletions or gains that have big effects, and big deletions/duplications that have no effect, so it depends very much on the genes involved. If his abnormality is not known, there is a good chance it's a blib. I don't know if that's good or bad news...

Glimmer is too polite and professional to tell you so, but genetics is moving so fast that a lot of regular healthcare professionals find it too complicated and can't keep up. You might want to ask nicely about whether there are any proper geneticists in you region.

stars
Was his blood test done by geneticists or are the hospital sending it off now to geneticists for further clarification?

The only condition I know of where there is damage on the X Chromosome is Fragile X Syndrome (my 2 youngest have this) but I don't know if there are other reasons for a damaged site on the X.

I think perhaps you should ring the people who did the test for clarification. And ask what happens now, e.g are they sending the bloods elsewhere.

they think it's an irrelevant blip but to know for sure they will test you and ds' dad, if you have this and are fine then they will rule it out of being the cause of his issues. If this isn't something either of you have then it could be the cause of any issues although this hasn't been shown to be the case with others previously. So this may be significant or it may not be, but it also does not rule out any other genetic causes as there may still be a genetic issue that cannot be picked up by any test that is currently availble.

as maria said genetics is a science that is moving very quickly at the moment but there is still so much that cannot be detected yet. Unique is a good place for information.

It may also be because they think it is something which may have been passed down...sometimes the carrier may not have any noticeable symptoms and it's only when someone with full on whatever it might be comes along, that it gets noticed IYSWIM (I don't think i explained that too well!)
But they'll be wanting to test you to rule out things I imagine.

The bloods were done and then sent to bristol, its taken 4 months to get the results and the test that this was picked up on was a Micro Array CGH, thats all I know.

hi
I had a similar sort of letter with my son. His blood was taken for genetic testing and it picked up a slight abnormality. They said they were not sure of the significance of the finding so took mine and my husbands blood for testing. Turns out that my husband also has the same fault and passed it on to him, but because he is fine and not disabled that cannot be the reason for our sons difficulties and is irrelevant, Just a coincidence they found it i guess. Think its called a normal varient.