Studies in humans have thus far been limited to case reports, including a patient with FAP secondary to deletion of the entire long arm of chromosome 5 leading to a phenotype of FAP with features of Prader-Wili Syndrome [4] and another patient with deletion of the entire APC gene through loss of 5q21-22 with the classic FAP phenotype along with intellectual disability and dysmorphic features [5]. The gene discussed is APC; the disease is Familial adenomatous polyposis.