A microdeletion is the loss of a small section of DNA that is not visible under the microscope. The loss typically comprises a few million bases and can only be detected with special techniques. In most cases, a microdeletion leads to a “contiguous gene syndrome”, as several neighbouring genes are affected by the loss of the DNA segment.
The best-known microdeletion syndromes are DiGeorge syndrome, Prader-Willi syndrome, Angelman syndrome, Williams syndrome and Wolf-Hirschhorn syndrome.
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