Karyotype: 46, XX, der (9) t(7;9) (p22.3;p24.3) Unbalanced Translocation of Chromosomes 7 and 9 or Partial Trisomy 7, Partial Monosomy 9
There is no syndrome name
(Translation in my words) She has an extra piece of chromosome 7 that duplicated and attached to chromosome 9, where chromosome 9 is missing a piece. This is actually two chromosome disorders in one. She has a duplication (of 7) AND a deletion (of 9).
Update August 09: Genetics is currently studying the 16 missing genes in Emily's missing piece of chromosome 9. This information may provide some reasons for her problems with high calcium and seizures.
Again, they can not say if it will shed any light on a prognosis.
3 comments:
WOW! Way to go!! That was awesome.... Noah still doesn't even get near the ball!
LOVE the look! All he needed to say was "GET SOME!" :) Hope all is well.
Keep the faith,
Al
Love you, Drew!!! Way to go Bud!!! Xoxo MeMe and PePe
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