Subject: chromosone disorder

ok , first up i'd really appreciate it if nobody takes the piss here

i have a nephew with the above condition and basically its that rare that docs dont really know too much about it

this is kinda a desperate last straw attempt by me to get some extra info for my sister , i know there are some really smart folks out there in sokker land so if you know anybody with a disorder relating to chromosone would you reply here or even sk mail me if you dont wanna post here

thanks fellow sokker users !

If you can be more specific we might be able to help. Which chromosome disorder are we talking about?

Yeah that's what I was going to say. Me and my sister have the same f**ked chromosome, it's resulted in her having benign brain tumours and me having cancer twice. Nothing can be done about chromosome mutation as it's part of your dna.
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i was going to say what nin said basically...
that probably not much can be done for it, as its at such a base level, and your dna replicates itself based on whats there already (makes copies of itself - which is how cancer spreads similarly)
cancer can be fought, but if its just a chromosome flaw, then probably not much can be done

heres a good basic site, but as it says, and as you will see (some disorders you will recognise)..most are bad disorders, basically the only good one there is
3. Trisomy X: 47, XXX females

which is basically a superwoman.. beyond that i have little knowledge on this, as i didnt do much on dna myself in uni, just the basics on how it replicates,

im guessing you need more info from your sis, but if docs do a test, they can basically tell her what defects if any the kid will/does have

as i said already, its uncureable... but can be very bad or not...
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I realise now I missed the chance to refer to it as Zombie Cell Disease. That always sounds more interesting.

thanks for the response gentlemen

it also leads to the body being non-symetrical , the docs have told my sis the wee man wil be lucky to live beyond 30 and that he probably ( I say defo ) wont walk - as it stands she cares for him 24/7 as the wee man isnt able to do anything for himself

edited - proper term for condition below
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sorry to hear about the cancer Nin - i hope you are well and beating it mate !

i cant get a hold of mys sister at the moment as she is at the hospital ( my nephew has been in for a week or so due to ill health ) but once i do i can post the proper term here about his illness

im just annoyed that after 5 years we are nowhere closer to knowing and understanding his condition - but i thank you for replying and trying to help out

cheers , its appreciated

Sad to hear about your situation :(

also kenyard , he had 2 blood transfusions 2 weeks ago and then the docs were worried about leukemia - but it wasnt that thankfully , then they said they were worried about a heart defect but again thankfully this seems to have been ruled out

it just seems that nobody knows enough about it , so therefore are scared to step-up and find out more

ive personally said to my sister to try and email some hospitals around the world , maybe a pic of the wee man and what she knows about his condition - who knows maybe , just maybe somebody somewhere can help out

9p minus partial 10p trisomy

that is the correct term for my nephews condition
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I'm fine thanks gentlemen.

"it also leads to the body being non-symetrical , the docs have told my sis the wee man wil be lucky to live beyond 30 and that he probably ( I say defo ) wont walk - as it stands she cares for him 24/7 as the wee man isnt able to do anything for himself"

You never know how things can turn out. My mum was told after my sister was born that she could die at any time, would never walk or talk. She's now 24 and can do pretty much everything I can, albeit a little slower.

thats nice to hear mate - i spoke tomy sister about 30 mins ago and he will be kept in at least another 2 days

ive also suggested that she emails some hospitals in america and maybe even australia to see if she can get any further info

What your nephew suffers from is a so called genomic aberration. In his case, he misses a part of chromosome 9, but has too much of chromosme 10. Genomic aberrations are not curable, but their severeness can strongly differ (take trisomy 21 as example, people suffering from it can live quite normal although a whole chromosome is supernumerous). I won't lie to you, as the doctors surely did not to your sister: Genomic aberrations yield severe symptoms and often lead to premature death before adulthood. But they don't have to. The only thing the doctors can do is fighting the symptoms, but the underlying cause, the genomic damage, can not be repaired.

Since we have 46 chromosomes, numerous different genomic aberrations can occur (although most of these are not viable -> miscarriage). I did not find specific literature on the combination of genomic aberrations your nephew is suffering from, I only found case studies on isolated cases of chromosome 9 deletions or chromosome 10 trisomies. Symptoms described there resembled those that you described. But I am not an expert in the field of genetic disorders. Still I would not advise you to randomly send emails to hospitals. Rather try to establish contact to an expert for genetic diseases.

thanks Lock

its just something i spoke about with my sister , but i will say to her to try and look into experts of genetic diseases . my nephew has soem severe symptoms but we really dont know too much about anything really . she was told however he more than likely wont live past 30

im really thankful for all your responses as i thought this was a no lose scenario - its great that some people have more knowledge than i do on this topic , one again thanks for all the responses so far !