I've gotten bits and pieces of this disease from UW and FA, so I wanted to see if I'm putting it together properly. Sounds like chr22q11 is important in neural crest migration, which affects development of the midface, thymus, parathyroids, and aorticopulmonary septum. So deletion of chr22q11 can lead to abnormalities in any or all of the above.
So when someone gets persistent TA or Tet of Fallot is this usually due to chr22q11, or are there multiple things that can cause those defects? Same question for DiGeorge: is it always a chr22q11 deletion or are there other things that lead to 3rd/4th branchial pouch problems?
Just trying to wrap my mind around it and see if they are all part of the same syndrome. thanks
So when someone gets persistent TA or Tet of Fallot is this usually due to chr22q11, or are there multiple things that can cause those defects? Same question for DiGeorge: is it always a chr22q11 deletion or are there other things that lead to 3rd/4th branchial pouch problems?
Just trying to wrap my mind around it and see if they are all part of the same syndrome. thanks