My son had genetic test ran and I don't understand what they are looking for...

[DIANNELANE]

My son had test ran and UNC Chapel Hill, NC for developmental delays. They ran a Fragile X DNA, Microarray analysis and a Chromosome study. Okay, everything turn out normal except they found a small deletion on chromosome 12....everything that I have searched for pulls up turmors and caner...stuff like that...I don't know if it is the short arm or long arm 12......??????.....I just want answers.....I don't know where to go or who to ask right now...I am at my wits end....My son is 5...her has a speech delay....he knows the ABCs....the colors...numbers....shapes...he tries to write letters....with help.....he loves music....he is VERY active...too much ACTIVE....he does not listen very good...like telling him to stop doing things...he does it anyway...you can put him in time out...spank hi hinney....it does not good...he gets very agressive at times...bumps his head on you...over and over...he hums...he gets excited and flaps his hands and stomps his feet...asking him what he ate for lunch that day...he repeats the question and can't tell you...he can tell you yes and no questions..only if you ask him "yes or no" and give him a chose to answer....he gets to talking and then he babbles like a toodler learning to talk...he has a puppy well...even a friends cat...that he will hold to his cheeks because he likes the feel of their fur....he is not your average 5 year old...he is in special ed at school...hoping that is a good thing for him...he has been in schools since he was 3 years old....special classes with kids like him....he has taken speech 2xs a week since he was 2 1/2 yrs old...I don't know what to do and I need answers...

[portuguese mom]

You might also post your question on the Genetics Forum.  At the top of the page, you see a box with the word "Forums".  Use this box and choose  the Genetics option.  I am not sure if there is an Expert version of the genetic forum. If so, you should post the question about the test on the expert genetic forum and a doctor will try to help you.  Sounds like you trying to help him as much as you can with Special Ed and Speech Therapy.  Did they do a psychological evaluation? If not, you need to obtain a development and psychological evaluation by a child development specialist, child psycholigist or psychiatrist.  One or more of these specialists will evaluate him for Autism and or ADD/ADHD.  If he has ADD, medication could help to aliviate his symptoms.  If he has Autism, he might be eligible for more services from the school district and from your state. Check to see if your health and mental insurance will cover the cost of the evaluation.  It is expensive.  If it does not cover it, and you can not afford it, the school district for your town needs to do one under the law (no chidl left behind).  In fact, you probably should have the school district do one in addtion to the one paid by your insurance with your own specialist.  You should request one in writting from the director of special needs in your school district. Based on this evaluation or evaluations, a plan will be implemented to help your child with more therapy, behavior plan and maybe medication.  Good luck and God Bless you and your child.

[DIANNELANE]

Thanks for pointing me in the right direction as to where to post this ... this was the first time that I had post and really, I just joined. I stumble over Medhelp when I was looking for information about my son. I just started with a child phycologist about 2 weeks ago...it is a little frustrating because I want answers and with her sitting there just asking questions that I feel are not really helpful and just watching him....ugh......I want her to get up and tell me what is going on but...I also know that observing him is very important...he is 5 yrs old and my patience are getting low...he is so busy...you mentioned Autism...I really feel that he has slot of the syptoms (symptoms) of a mild form...though I can be wrong about that and ADHD....oh yeah...I would be shocked if one said that he did not have it...they would be picking me up off the floor..lol....well...thanks again and thank you for the blessings!

[Natta1980]

Ok - that is what I was told by my son's doctor - they've looked for the same things - they test for that Chromosome deletion because that they are researching it right now - there is a hypothesis that it causes sleep apnea in adolescent children with ASD.....But it was AFTER he was assesed as mild PDD (although school system did not agree and placed him into social delays category)

Most likely they tun it for research purposes, for Fragile X they say that they are coming up with some kind of drug to reduce Symptoms, for chromosome deletion - I guess you could learn CPR, just like with sleep apnea

With all that said, most of the time they do behavioral assesment first, and then look for possible genetic cues, there is not genetic test to diagnose Autism Spectrum Disorder

By the way, in our case, all tests came in clean

[Sally44]

To get answers I think you need to go back to your doctor to explain exactly what tests they ran and why.  It is not acceptable for your to be worrying about things like cancer and tumours with no explanation being given to you at all as you could well be worrying unnecessarily.
I would also ask that your son is assessed by a multi-disciplinary team that has experience of autistic spectrum disorders as some of his behaviours could be due to that.  That would involve a Speech and Language Therapist as well as an Educational Psychologist and possiblly an Occupational Therapist.
I would also google Sensory Integration Disorder and see if that sounds relevant to your child.
It might be worth posting on the autism forum as well.  
I suspect that doctors have ran those tests to eliminate certain genetic disorders.  If that gives no clear answers then you are probably looking at possible neurological conditions such as developmental delays, autism, adhd as either separate or a combination of conditions etc.  

[taylor911]

Just a quick note to say hi! Just recently it was discovered that my son has a partial deletion of chromosome 12.
Being told this and the consequences was worrying until it was discovered that I too have it....sure I had learning problems ( abit slow on the uptake)and back in the early 60's Britain there was not much help...except remedial classes. I did things in my own time, I thank God I can watch out knowing my son will probably have a slower pace, but thats fine, He'll get all the help he needs. We are in touch with the genetic doctors here in Atlanta. So little is known about this. I am now 48 and my son is 14 months, i have had no tumours..that I'm aware of. Please feel free to contact me regarding this chromersome 12 . ***@****.