Linked Life Data

17598875

Source:http://linkedlifedata.com/resource/pubmed/id/17598875

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
Pt 8
pubmed:dateCreated
2007-6-29
pubmed:abstractText
This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric abnormalities should warrant further genetic investigation of chromosome 17p11.2 deletion site as it may be a promising region for containing a gene(s) of aetiological importance in the development of the GTS phenotype. Alternatively, the co-occurrence may be due to the common endophenotypic mechanisms shared by these disorders, rather than being specific for GTS that could be explored using strategies of quantitative trait loci - endophenotype-based approach. Research into this genomic region may also benefit psychiatric genetic research in enhancing understanding of the biological and molecular underpinnings of common behavioural problems that are seen in both GTS and SMS. This would lead to advancement in neurobehavioural/neuropsychiatric genetics which will help in further explaining the broader perspective of gene-brain-behaviour interrelationships.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0964-2633
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
620-4
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes?
pubmed:affiliation
Department of Neurology, The Royal Hospital, Ministry of Health, Muscat, Oman. bpshelley@yahoo.com
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't