Hi, I was wondering if anyone can help me.
Since my daughter was born on the 8 December 2007, she has had a problem with her breathing being too rapid, taking breathes at 80 breathes per minute, we have been seeing numerous pedeatricians but no one can seem to put their finger on whats wrong with her. We've been back and fourth to Princess Margaret Hospital (Childrens Hospital) and having CT scans and xrays on her lungs and her heart and they've found several other abnormalties with her heart, it shows that a few of her arteries aren't where they are suppose to be, their like a mirror image of each other, I'm probably not explaining it properly but its alot of information that doctors have told us and it all sounds very scary.
Our last appointment was yesterday and now they are saying that considering these symptoms and the fact that her nose seems a bit flatter than normal, these symptoms are leading to Q22. That has been the only answer that we've gotten so far. I know that its not Down Syndromw because they tested for that when she was first born, they took some blood from her cord and it came back negative. I've been trying to research Q22 and can not find any info about it, so if someone could help me out with any info, symptoms, anything it would be much appreciated. The doctor briefly described it to us but didn't go into detail as we havn't tested for it yet and he didn't want to jump the gun and get us all worried (Too Late)
So as I said any info will be very very very much appreciated.
Sure hope this is how to reply to your request as I am new here. I have a 30 year old son who has q22 deletion syndrome also known as DeGeorgio syndrome and Felocardiofacial syndrome. In order to determine if your daughter has this deletion they have to do a FISH test. They use a floresence to highlight the chromosone and study it under a high powered microscope. Other problems associated with this deletion are hypocalcemia, cleft palate or hole in the soft palate which can cause speech problems it not repaired. Heart problems, a lot of illness, i.e. pneumonia, bronchial pneumonia, etc. Learning disabilities and short stature. I think the earlier it is caught the better the outcome because intervention is started. Unfortunately my son wasn't diagnosed until he was 25 years old. God bless and good luck to you. I hope your little girl is well. As a side note I was born December 9th.
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