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

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

Blog Article

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 comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.

2 NEFF C17FS32N0B N 90 Built-in compact oven with steam function Stainless steel encompassing the entire APC gene.The patient and her son exhibited mild intellectual disability without developmental delay.This case highlights the need for further exploration of the characteristics associated with Bloomer whole APC deletions.

aCGH is a valuable tool for studying FAP and provides a detailed analysis of large deletions.