Article
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
American journal of medical genetics. Part A - 1 Oct 2006
Rauch Anita, Hoyer Juliane, Guth Sabine, Zweier Christiane, Kraus Cornelia, Becker Christian, Zenker Martin, Hüffmeier Ulrike, Thiel Christian, Rüschendorf Franz, Nürnberg Peter, Reis André, Trautmann Udo
Abstract excerpt
The underlying cause of mental retardation remains unknown in up to 80% of patients. As chromosomal aberrations are the most common known cause of mental retardation, several new methods based on FISH, PCR, and array techniques have been developed over recent years to increase detection rate of subtle aneusomies initially of the gene rich subtelomeric regions, but nowadays also genome wide. As the reported...
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