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

中文翻译：

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家族性腺瘤性息肉病的基因组学见解：揭示 APC 基因全缺失和智力障碍的罕见病例

一名被诊断患有晚期结肠癌并肝转移的年轻患者，通过全面的基因组分析发现患有家族性腺瘤性息肉病（FAP）。全基因组阵列比较基因组杂交 (aCGH) 显示染色体 5q22.1-22.2 处包含整个APC基因的种系缺失。患者和她的儿子表现出轻度智力障碍，但没有发育迟缓。该病例强调需要进一步探索与整个APC删除相关的特征。 aCGH 是研究 FAP 的宝贵工具，可提供大缺失的详细分析。