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Thursday, January 17, 2008

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1 comment:

Shannen&Makena said...: That is such great news about Emily! I will pray that she continues to thrive! I got chills reading that she laughed for the first time, it's so heart melting to hear that wonderful noise!

Love, Shannen & Makena; January 21, 2008 at 10:56 PM

Emily's Chromosome Disorder

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.