Candidate region for Gilles de la Tourette syndrome at 7q31
- 11 June 2001
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 101 (3) , 259-261
- https://doi.org/10.1002/1096-8628(20010701)101:3<259::aid-ajmg1374>3.0.co;2-#
Abstract
Gilles de la Tourette Syndrome (GTS) is a complex neuropsychiatric disorder characterized by motor and vocal tics. The cause of this syndrome is unknown, 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 anomalies, 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 GTS. Together, these cases provide evidence that a gene located in the breakpoint region at 7q31 can be involved in the formation of GTS.Keywords
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