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Decreased mRNA Compared to Controls
My daughter had a skin fibroblast done last year and it showed decreased mRNA ( RAI1-Gene) compared to Controls EBV. could some please put this in laymen's terms? Also, why does the DNA-CGH-Array with RAI1 probe show different findings (Variant in RAI1)? No duplication or deletion
asked Nov 01, 2010 at 10:24AM in Other
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answered Nov 01, 2010 at 11:12AMThis site may help.
http://ghr.nlm.nih.gov/gene=RAI1-
Thank you Chris: thing is that my daughter has been considered for SMS Syndrome but they aren't able to confirm it; As I share one of the variants ! but yet not effected! I can't seem to get any clear answer why fibroblast shows decreased mRNA and the CGH arry shows a variant. as well my daughter doesn't fit the clinical phenotype of a child with SMS RAI1 Variant! On Chromosome 1 long arm my daughter has 400KB duplication and on Chromosome 17 long arm 400KB Duplication along with the variants and only showing one copy of MOY15A gene ( these findings only make things more complex) than stRoseanne J Ledingham commented Nov 01, 2010 at 11:29AM
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The content on or accessible through Medpedia.com is for informational purposes only. Medpedia is not a substitute for professional advice or expert medical services from a qualified health professional.
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