Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Abstract A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis.Whole-genome array Saddle Carriers comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene.

The patient and her son exhibited mild intellectual disability without developmental delay.This case highlights the need for further Clothing - Mens Bottoms - Underwear exploration of the characteristics associated with whole APC deletions.aCGH is a valuable tool for studying FAP and provides a detailed analysis of large deletions.

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