Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Kroisel, PM; Petek, E; Emberger, W; Windpassinger, C; Wladika, W; Wagner, K.
Candidate region for Gilles de la Tourette syndrome at 7q31.
Am J Med Genet. 2001; 101(3):259-261
Doi: 10.1002/1096-8628(20010701)101:3<259::AID-AJMG1374>3.0.CO;2-#
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Führende Autor*innen der Med Uni Graz
- Kroisel Peter
- Co-Autor*innen der Med Uni Graz
- Emberger Werner
- Petek Erwin
- Wagner Klaus
- Windpassinger Christian
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Chromosome Aberrations -
- Chromosome Banding -
- Chromosomes, Human, Pair 7 - genetics
- Cytogenetic Analysis - genetics
- Gene Duplication - genetics
- Humans - genetics
- Male - genetics
- Tourette Syndrome - genetics
- Find related publications in this database (Keywords)
- chromosome 7q
- cytogenetic analysis
- duplication
- mental retardation
- Tourette syndrome