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Marfan's Syndrome Karyotype? |
Hey guys. I'm desperate for a Karyotype of Marfan's Syndrome. Does anyone know where i can find an image for my powerpoint presentation? A Marfan's Syndrome karyotype would look no different than a karyotype from a normal person. That is because Marfan's is caused by as little as one mutation to one gene (most commonly the fibrillin-1 gene), and this mutation would not be visible in a karyotype. Karyotypes can only discover chromosomal abnormalities that are large enough to be visualized with a microscope, like Down's Syndrome in which an extra chromosome 21 is seen. Diagnosis of Marfan's is confirmed with DNA sequencing of the fibrillin gene to look for mistakes. Maybe you could show a DNA sequencing gel for your PPT. Hope this helps! |
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