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Chunk #0 — 1. Introduction

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Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.
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Klippel-Feil Syndrome (KFS) involves a congenital fusion of vertebrae in the cervical spine [1]. Tourette Syndrome (TS) is a heritable neuropsychiatric disorder characterized by persistent, childhood-onset tics that fluctuate in intensity, migrate in anatomic location, and are performed in response to sensory urges [2]. Motor stereotypies usually have younger onset, are much more stable phenomenologically, and occur involuntarily with excitement or other stimulation [3]. Longstanding clinical observations that high doses of amphetamines can induce stereotypies and tics [4], while dopamine receptor blocking agents inhibit them [5], support a hyperdopaminergic neurotransmission or receptor hypersensitivity model for these symptoms, although the dopamine/tic relationship is likely much more complex [6].