9p monosomy in a patient with Gilles de la Tourette's syndrome
Autor: | Charles T. Caskey, A. Hayani, Joseph Jankovic, P. C. Steuber, D. B. Krizman, L. D. Taylor, R. G. Fenwick, F. Greenberg |
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Rok vydání: | 1991 |
Předmět: |
Genetics
Involuntary movement Male Adolescent Tourette's syndrome Genetic disorder Chromosome 9 Locus (genetics) medicine.disease Family studies Monosomy 9p monosomy Karyotyping Interferon Type I medicine Humans Neurology (clinical) Vocal tics Psychology Chromosomes Human Pair 9 DNA Probes Polymorphism Restriction Fragment Length Tourette Syndrome |
Zdroj: | Neurology. 41(9) |
ISSN: | 0028-3878 |
Popis: | Gilles de la Tourette's syndrome (GTS) is a genetic disorder characterized by multiple motor and vocal tics, obsessive-compulsive disorder, and attention-deficit disorder. Family studies support the presence of an autosomal dominant gene; however, to date, an assignment for the GTS locus has not been made. We present the case of a boy with GTS and a deletion of the terminal portion of the short arm of chromosome 9, del(9)(qter----p2304:). |
Databáze: | OpenAIRE |
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