Ontology highlight
ABSTRACT:
SUBMITTER: Patel C
PROVIDER: S-EPMC3110039 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Patel Chirag C Cooper-Charles Lisa L McMullan Dominic J DJ Walker Judith M JM Davison Val V Morton Jenny J
European journal of human genetics : EJHG 20110309 6
Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46,XY,t(2;7)(p24.2;q31)]. Further analysis using array comparative genomic hybridisation (CGH) revealed a cryptic deletion at 7q31.1-7q31.2. Breakpoints disrupting this region have been reported in one isolated and one familial case of Tourette syndrome. In our case, IMMP2L, a gene coding ...[more]