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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.

My Infertility Journey (the SUPER short version)

Saturday, September 5, 2009

I (I mean YOU) could win this beautiful bag!

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