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In 95% or better of the cases studied, individuals having Williams syndrome are missing the elastin gene from one of their two copies of chromosome number seven. In Williams syndrome, there are at least 15 genes missing from one copy of chromosome seven, but the first one discovered, the elastin gene, is the one that is used in the current FISH diagnostic test.

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Please send mail to williamssyndrome@insightbb.com with questions or comments about this web site.
For additional information about Williams syndrome, please send an e-mail to hlenhoff@uci.edu.
For contact with other Williams syndrome families --
In the USA: please send e-mail to info@williams-syndrome.org
Outside the USA: please visit our International Williams Syndrome Support Groups page for contact information.
Copyright © 2002 Williams Syndrome Foundation
Last modified: April 15, 2007