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Analysis of Chromosomal Deletion at 5q22.2 in Familial Adenomatous Polyposis

This study utilizes fluorescent in situ hybridization (FISH) to analyze a bacterial artificial chromosome clone from the APC (adenomatous polyposis coli) gene region. The findings reveal a single red signal, indicating a chromosomal deletion at 5q22.2 in the patient. This genetic analysis offers important insights into familial adenomatous polyposis in relation to unexplained mental retardation. The results contribute to understanding the genetic underpinnings of the condition and suggest potential directions for further research and patient management.

raphael-mccray
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Analysis of Chromosomal Deletion at 5q22.2 in Familial Adenomatous Polyposis

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  1. Figure 4 Fluorescent in situ hybridization analysis performed with a bacterial artificial chromosome clone from the APC (adenomatous polyposis coli) gene region (RP11–107C15, labeled in red), revealing only a single red signal, thereby confirming the patient's chromosomal deletion at 5q22.2 Heald B et al. (2007) Familial adenomatous polyposis in a patient with unexplained mental retardation Nat Clin Pract Neurol3: 694–700 10.1038/ncpneuro0658

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