Guest guest Posted February 3, 2000 Report Share Posted February 3, 2000 In a message dated 02/03/2000 9:46:11 AM Eastern Standard Time, tammymae@... writes: << i posted a message about myself being a carrier of a chromosome disorder parcial trisomy 8. inversion in #8 chromosome,someone e-mailed me i accidently deleeted before i got to read it.please respond again >> I am not the one that responded, but my daughter has a 12D chromosome deletion - a deletion of the short arm of chromosome 12. The size of the deletion can vary and has a large portion missing. This is really rare. She also has craniofacial abnormalities, which is not part of the 12D deletion so I don't think her chromosome deletion is in any way related to the Chairi. But because it is so rare, we'll probably never know. Tory ('s mom) 17ys. old, craniofacial abnormalities, midline facial cleft, hydrocephalus, growth hormone (weighs 56lbs.) and thyroid defecient, blind, severly delayed, choanial atresia, optic nerve hypoplasia, artificial tear duct, 12-P deletion, sensory intergration disorder, latex allergy, ACM I, I I/2 or II?? w/30mm herniation, basilar impression. June10, 98' suboccipital craniectomy and lamenectomy of C1 & C2. Aug. 10, 98' dura graft. History of 36 surgeries. (and musically talented) SUCH A SPECIAL LITTLE GIRL! Quote Link to comment Share on other sites More sharing options...
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