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Okay group,

I finally got 's records. Just a reminder about her, we were

initially told she had MDS, then were told the nurse screwed up and it was

Trisomy 21. If anyone can help me interpret, I am just going to type what

the two reports say.

Chromosomes of 20- PHA stimulated lymphocytes were counted. These cells had

a modual number of 47 chromosomes. Five cells were analyzed fully using the

G-banding and two cells were karotyped. The sex chromosome constitution was

that of a female. Each cell analyzed had three chromosome 21's, consistent

with a diagnosis of Down Syndrome. Genetic counseling concerning this

condition is warranted.

FISH Interpretation:

DNA probes specific for human chromosomes 13 and 21 were used in

fluorescence in situhybridization (FISH) on uncultured blood cells. The

patterns obtained are consistent with those derived from specimens

containing cells with trisomy or partial trisomy, for chromosome 21. The

results of this analysis apply only to the regions of these chromosomes

targeted by probes; structural rearrangements will not be detected by this

assay. We cannot rule out a low level of mosaicism for aneuploidy for one

of these chromosomes. These results will be follow-ed up by conventional

cytogenetic analysis.

Thanks,

Kim =)

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_____

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