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This case study presents images of a patient exhibiting an interstitial deletion of 5q22, specifically affecting the APC (adenomatous polyposis coli) gene, at 22 years of age. Conducted by Heald, B. et al. (2007), this examination sheds light on the relationship between genetic abnormalities and neurodevelopmental issues, revealing a case of familial adenomatous polyposis in a patient with unexplained mental retardation. The findings contribute to our understanding of the implications of genetic deletions on cognitive and physical health.
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Figure 1 Images of the case patient with an interstitial deletion of 5q22 encompassing the APC (adenomatous polyposis coli) gene, taken at 22 years of age Heald B et al. (2007) Familial adenomatous polyposis in a patient with unexplained mental retardation Nat Clin Pract Neurol3: 694–700 10.1038/ncpneuro0658