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Chunk #10 — 2. Case Presentation

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Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.
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To assess possible clinical implications of this finding, cerebrospinal fluid was obtained via lumbar puncture for assessment of neurotransmitter levels. Routine cells (1 white, 1 red blood cell), protein, and glucose were normal. Levels of CSF neurotransmitter metabolites were obtained through HPLC testing commercially (Medical Neurogenetics, Atlanta, Georgia). The level of 3-O-methyldopa, a metabolite of L DOPA via COMT, was normal at 19 nmol/L (normal <100). The level of Homovanillic acid, a final common pathway metabolite of dopamine and norepinephrine via COMT, was normal at 279 nmol/L (167–563).