Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3) |
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| Authors: | Gallagher Louise Becker Kristin Kearney Geraldine Dunlop Adam Stallings Ray Green Andrew Fitzgerald Michael Gill Michael |
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| Institution: | (1) Department of Psychiatry, Trinity College, Dublin, Republic of Ireland;(2) Department of Genetics, Smurfit Institute, Trinity College, Dublin 2, Republic of Ireland;(3) Autism Research Group, Neuropsychiatric Genetics, Trinity College, Dublin 2, Republic of Ireland;(4) Our Lady's Hospital, National Centre for Medical Genetics, Crumlin, Dublin 12, Republic of Ireland;(5) Department of Medical Genetics, The Conway Institute, University College, Dublin, Republic of Ireland |
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| Abstract: | Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the three core areas of communication, social interaction, and behavior. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of a genetic etiology. Molecular genetic studies report some association with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here we report a clinical case of autism with a deletion on chromosome 2 in a young male with high-functioning autism. The deletion seems to correspond with regions emerging from linkage studies. We propose this as a possible candidate region in the search for autism genes. |
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| Keywords: | Autism genetics cytogenetics chromosome 2q |
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