[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by wendy on 12/4/2007, 7:54 pm, in reply to "Chromosone 22q11.2 Duplication"
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--Previous Message--
: My son has a duplication of the 22nd
: chromosone. We found out when he was
: 5 days old and was having seizures.
: The seizures were caused by low
: calcium (.85) and high phosphorus. He
: had an MRI, Cat Scan, Spinal Tap,
: ECHO, EKG, EEG and various blood
: tests, all of which were normal or
: negative. His Phish test said that he
: possibly may have digeorge syndrome.
: The Genetists have ruled that out
: because he has no characteristics
: other than the duplication of
: chromosone 22q11.2. He has no facial
: distortions, his heart is perfect as
: is his brain. The endocrinologist has
: put him on calcium (which he is now
: off of), Vitamin D (one drop) and
: Similac PM60/40 which is a
: hypocalcemic formula. He is on
: phenobarb cause of the seizures but
: the EEG came up normal. I have been
: to my pediatrician, endocrinologist,
: immunologist & neurologist. My
: child looks "normal" and all
: the tests are "normal", is
: there anyone out there that has a
: duplication of the 22nd chromosone
: who's child is "ok"!
:
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