Gilles de la Tourette Syndrome (GTS) is a complex n europsychiatric disorde
r characterized by motor and vocal ties. The cause of this syndrome is unkn
own, although based on family studies there is evidence of a strong genetic
component. We report on a 13-year-old boy with GTS, minor physical anomali
es, and a de novo partial duplication of chromosome 7q [dup(7)(q22.1-q31.1)
]. The distal breakpoint in our patient is similar to the breakpoint of an
apparently balanced familial translocation t(7;18) segregating with G;TS, T
ogether, these cases provide evidence that a gene located in the breakpoint
region at 7q31 can be involved in the formation of GTS, (C) 2001 Wiley-Lis
s, Inc.