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Chunk #11 — 3. Discussion

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Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.
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We describe a boy with KFS, TS, stereotypy, and obsessive compulsive symptoms in association with de novo 22q11DupS with normal parental. This is the first report of TS associated with 22q11DupS. The incidence of TS in the general population is sufficiently high that this association could be incidental. However, a 22q11.2 deletion has been reported in association with tics and TS [7], and as neither parent had a personal or family history of these neuropsychiatric symptoms, our results suggest that the 22q11DupS may confer risk for the TS phenotype.