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Chromosomal Abnormalities

Williams Syndrome
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Williams Syndrome Mnemonic

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Williams Syndrome is a congenital disease caused by a microdeletion of the long arm of chromosome 7, which includes the gene encoding elastin.

Since Williams Syndrome is caused by a microdeletion, the FISH technique is required for diagnostic confirmation. Clinical findings include elfin facies and excessive friendliness, cognitive delays, and hypercalcemia. Cardiovascular complications include supravalvular aortic stenosis, as well as renal artery stenosis

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