Of the genes contained within the duplicated region detected in our patient, eleven are present in the Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim) morbid map, and of these, all but NOTCH1 are associated with autosomal recessive disease and homozygosity for terminating mutations (Table 2). The gene discussed is NOTCH1; the disease is autosomal recessive disease.