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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Rittey, C. Ferrie, C. D. Barth, P. Jackson, A. P. Van Beusekom, E. Roberts, E. Voit, T. Kálmánchey, R. Brunner, H. G. Hamel, B. C. Jayatunga, R. Stephenson, J. B. McWilliam, R. Corry, P. Crow, Y. J. Tolmie, J. L. Meager, A. Woods, C. G. Livingstone, J. Van Bokhoven, H. Kelemen, A. King, M. Massey, R. Kumar, R. Verrips, A. Karbani, G. |
| Description | Country affiliation: United kingdom Author Affiliation: Crow YJ ( Molecular Medicine Unit, Clinical Sciences Building, St. James's University Hospital, Leeds, United Kingdom. ycrow@hgmp.mrc.ac.uk) |
| Abstract | We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha=.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 67 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2000-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Abnormalities, Multiple Genetics Brain Damage, Chronic Chromosomes, Human, Pair 3 Genetic Heterogeneity Diagnosis Epidemiology Physiopathology Age Of Onset Child, Preschool Chromosome Mapping Diagnosis, Differential Genetic Markers Infant Infant, Newborn Lod Score Models, Genetic Pedigree Syndrome Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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