Although we observe multi-gene deletions in these regions (Fig. 5c), including genes such as the human-specific fusion gene CHRFAM7A, whose deletion has been implicated in Alzheimer’s disease pathology43, none of these deletions extend beyond the SD into the unique critical regions for named syndromes in our samples. The gene discussed is CHRFAM7A; the disease is early-onset autosomal dominant Alzheimer disease.