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-   -   chromosome disorder?? (http://www.healthboards.com/boards/rare-disorders/528333-chromosome-disorder.html)

jdoxakis 08-24-2007 07:37 PM

chromosome disorder??
 
My 8 yo son had some genetic testing done 2 mths ago. I just got back the results and the microarray test revealed that he has a bit of extra genetic information on his X chromosome. At this point they can't tell me much until I get tested to determine if it was genetically passed down from me to him. Has anyone ever heard of this and what it means. Just trying to get a head start because it will take a month for me to get tested and another 2 mths to get the results. They said it could be an isolated event that just happened that wasn't genetically inherited from me. Does it make any difference whether it was a one time event or genetic not aside from the fact that if it was genetic my daughter may have it too and passed it down to her child. Surely they could tell what to expect from both sides of the coin--tell me what it means if it genetic and if its not. Surely they have encountered this before and have an idea and what to expect and any health problems it may cause in the future. Please if anyone knows anything about please let me know. He was DX with Pervasive Developmental disorder a few mths ago. He has major ADHD. It was determined he does have a learning disablity. Physical characteristics are he has hyperthelorism and short palprebral fissures (close set eyes & short eyelids), velvet soft skin ( it was thought he had Fragile X until the test ruled it out). Other characteristics include but are not limited to: toe walking, sensory seeking- under/over responsive sensory Issues, mood swings (like a light switch), anger control problems, difficulty comprehending and understanding simple directions, school difficulty--sitting there doing homework is like finger nails across a chalkboard for him (he said his brain hurts when he tries to think about what to do or how to answer the question)

john449 08-30-2007 10:28 PM

Re: chromosome disorder??
 
You know Emory University has a pretty strong genetics department. Bet they would talk to you give you some help. Good luck with your young man.

AmyTx 09-20-2007 08:53 PM

Re: chromosome disorder??
 
it sounds like a variation of klinefelter syndrome... my adopted son has XXXY syndrome.. he has 2 extra female chromosones.. you can do a search on ****** for 48,xxxy syndrome variant of klinefelters. they do have behavioral issues among other things.. if you want to message me you can... but i was told it can be genetic.. but since he is adopted and most likely sterile it wont matter... the more x's the more prevelance there is for retardation..

Klinefelter's Syndrome is a genetic disorder that happens in 1 in every 500 to 1000 male births. Instead of the normal XY chromosomes, these individuals have and extra X chromosome making them XXY. The normal human genetic make up is 46XY. Males usually have one X and one Y chromosome, i.e. the chromosome constitution 46,XY. Males with Klinefelter's syndrome have two X chromosomes (47-XXY), in rare cases three (48-XXXY) or four (49-XXXXY) X-chromosomes. The X-chromosomes carry genes in terms of development of testicles, sex hormone production and physical sex development in general as well as to a certain extent also height growth. The extra chromosome(s) results in a series of issues
Klinefelter's Syndrome Symptoms
Small Firm Testicles
Low Testosterone
Infertility
Incomplete Masculinization
Female Body Hair Distribution (Sparse facial, armpit, and pubic hair)
Decreased Libido

Low Energy
Developmental Delays
Difficulty with Motor Skills
Impaired Language / Speech Skills (especially with expressive language)
Learning Disabilities
Normal or High IQ
Social Interaction Difficulties
ADHD (Attention Deficient Hyperactivity Disorder)
Impulse Control Disorder
Depression
Low Self Esteem


i heard testoserone therapy at puberty is good too.... i hope this helps... you can message me here...

NerveEnding 09-25-2007 01:07 AM

Re: chromosome disorder??
 
Hi,

I can't begin to guess what your son might have, but I can try to explain what it means about the extra piece of the chromosome. It is a little difficult on the computer, but I'll try.

Let's say that these are your two x chromosomes:

\/ [COLOR="Red"]\/[/COLOR]
[COLOR="Black"][/COLOR]/\ [COLOR="Red"]/\[/COLOR]
[COLOR="Black"][/COLOR]
Now, normally each child has a 50/50 chance of getting one of your X chromosomes.

Now lets say one of your X chromosomes breaks a little, and then it accidentally reforms with the other one. Now you have:

\/ [COLOR="Red"]\/[/COLOR][COLOR="Black"][/COLOR]
/\ [COLOR="Red"]/[/COLOR]
[COLOR="Red"]\[/COLOR] [COLOR="Black"][/COLOR]

So now you still have all your genetic material, so there is no problem for you. But if your child gets the X on the left, they have too much material, and if they get the one on the right, they don't have enough. This is why they need to determine if it genetic.

Some women who have multiple spontaneous miscarriages have this sort of problem with their chromosomes.


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