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
Rok vydání: 1991
Předmět:
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