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Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.
Williams syndrome is caused by a chromosomal microdeletion in the q11.23 region of one copy of chromosome 7. It cannot be detected conventional karyotyping and is revealed by FISH (Fluorescent In Situ Hybridization) analysis, which leads to diagnosis in 95% of the cases.
The incidence of typical forms is 1/20.000 births.