Williams Syndrome FISH Test Explained

Williams Syndrome is caused by a microdeletion of DNA from chromosome 7. Because this deletion is so small, it's impossible to see the difference in the size of an affected chromosome by looking down a microscope. Therefore we need another type of test. The FISH test has a very specific technical name meaning Fluorescent In Situ Hybridisation. You really don't need to know what this means in detail but what it means in practice is we can make a small piece of DNA to use as a probe, like a piece of bait or a fishing hook to seek out genes that may, or may not be present in the chromosomes of an affected person. Please read on to find out just how this works!
Williams Syndrome is caused by a microdeletion of DNA from chromosome 7. Characteristic symptoms include specific facial features, common heart defects, an over-friendly personality and a fascination with music. How can deleting or losing just a few genes cause all these many symptoms of Williams Syndrome? More than 20 genes are lost in this deletion and their complex story is still being unravelled. Sometimes it might be possible to associate the absence of a certain gene with a specific defect while the deletion of other genes has more subtle or widespread effects. Although our knowledge is patchy, these insights provide into the ways that we learn and develop skills, at least gives us better clues as to how we can teach, support and encourage people affected by Williams to learn and to engage more fully with their world.
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If you've ever entered "Williams Syndrome" into an internet search engine you've probably also received an answer that describes it as a complex condition with many symptoms. You've probably also heard that this syndrome is caused by a microdeletion of a small number of genes from chromosome 7. When you know the person who has, or may have Williams Syndrome, what does all this mean? If you'll allow me just a few more minutes of your time I'll do my best to explain the complex ideas behind the technical stuff of what a genetic deletion is, how it happens and what effects it can have.
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