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Williams syndrome
How is it diagnosed?
Clinical diagnosis is based on a variety of characteristics common to Williams syndrome, including the typical facial features, heart problems, poor feeding and developmental delay.
Williams syndrome is confirmed by a taking a blood sample, which is then tested to see if the relevant microdeletion is present. Fluorescent in situ hybridisation (FISH) or microarray comparative hybridisation (array-CGH) are two tests that can be used to see if there is material missing from chromosomes.
What are the causes?
| How is it treated? ![]()