Tuesday, July 23, 2013

answers finally

so we went and saw the geneticist today. lexi has 3 duplications of her chromosomes. the first one is 2p21 involving six3gene. we dont think this one is affecting her because she doesn't have holoprosencephaly. the second one is 7q32.1 incolving the flnc gene. that one would explain her muscle weakness so they did blood work to make sure we arent dealing with a muscle myopathy. 3rd one is 15q22.2 involving the gene tpm1. now that one causes cardiomyopathy so we now have to have an echo to make sure her heart is ok. honestly we have answers but we also have questions as well but im glad they found something finally

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