Ontology highlight
ABSTRACT:
SUBMITTER: Clarke RA
PROVIDER: S-EPMC2797364 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Clarke Raymond A RA Fang Zhi Ming ZM Diwan Ashish D AD Gilbert Donald L DL
Case reports in medicine 20091222
This is the first case description of the association of Klippel-Feil Syndrome (KFS), Tourette Syndrome (TS), Motor Stereotypies, and Obsessive Compulsive Behavior, with chromosome 22q11.2 Duplication Syndrome (22q11DupS). Neuropsychiatric symptoms in persons with 22q11.2 deletion, including obsessive compulsiveness, anxiety, hyperactivity, and one prior case report of TS, have been attributed to low copy number effects on Catechol-O-Methyltransferase (COMT). However, the present unique case of ...[more]