Genetic Disorders Expert Forum
26 month old boy
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26 month old boy

large 6p deletion at 25.1 and a large size duplication of chromosome 7q 21.13

What the heck does all this mean? Even the genetics counselr said they didnt know what it meant!! I am frustrated!!

Also he has muscle tone issues in his feet/ankles.....so now he has to wear braces...He also has seizures, blue sclera, and aspergers....other than all of this he is just a normal two year old. He acts like any other little boy!! Nothing out of the norm, and if it werent for his seizures starting as a small infant, we would not have known anything was wrong.....Even his seizures arent as bad as they could be...he has tonic, atonic, and absence....and not too often now!! He is on lamictal and depakote sprinkles..........................any ideas...I am so tired of asking and finding out nothing!! I want to know if this is all related to his chroomosme stuff, and what else might come along,..or are there other tests we could/should be doing?!

Thanks so much!! <3
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Hi Vickilynn, My son has DiGeorge, he has a deletiong of the 22 chromosome. He had seizures when he was born and it was due to a lack of calcium. He was treated with Calcium until the age of 15. He also has a learning disability.
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