A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome?

Robertson, Mary M, Bhaskara, Shelley P, Dalwai, Suraiya, Brewer, Carole and Critchley, Hugo D (2006) A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome? Journal of Psychosomatic Research, 61 (3). 365 -368. ISSN 00223999

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Abstract

This is the first published case description of the association of Gilles de la Tourette’s syndrome (GTS) and chromosome 22q11.2 deletion syndrome (22q11DS; previously referred to as CATCH- 22 syndrome). The co-occurrence of GTS, 22q11DS, and their behavioral/neuropsychiatric abnormalities may be due to the common endophenotypic mechanisms shared by these disorders,rather than due to specificity for GTS. Research into this genomic region may lead to advancement in neurobehavioral/neuropsychiatric genetics, which will help us in further explicating a broader perspective of gene–brain–behavior interrelationships and of the genetic underpinnings of various developmental psychopathologies and behavioral/neuropsychiatric disorders that are common to both GTS and 22q11DS. Our report should warrant further genetic investigations of the chromosome 22q11.2 deletion site using alternative strategies to the quantitative trait loci endophenotype-based approach, which would be useful for establishing the biological and molecular underpinnings of obsessive–compulsive disorder, attention deficit/hyperactivity disorder, and GTS. D 2006 Elsevier Inc. All rights reserved

Item Type: Article
Keywords: Gilles de la Tourette’s syndrome; CATCH-22 syndrome; Microdeletion syndrome; Chromosome 22q11.2 deletion syndrome; Endophenotype; Genetics
Schools and Departments: Brighton and Sussex Medical School > Clinical Medicine
Subjects: Q Science > QH Natural history > QH0301 Biology > QH0426 Genetics
R Medicine > R Medicine (General)
Depositing User: Jil Fairclough
Date Deposited: 26 Jul 2010
Last Modified: 30 Nov 2012 16:54
URI: http://sro.sussex.ac.uk/id/eprint/2444
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