EYA1 and BOR syndrome: It has been estimated that ~ 20% of individuals with BOR/BOS syndromes may harbor large copy number variants (CNV) and complex genomic rearrangements [4], as suggested by the description of patients with a dir ins(8)(q24.11;q13.3;q21.13) [10, 11], with a recurrent 8q13.2q13.3 deletion [12, 13], and with few non-recurrent deletions involving EYA1 [14, 15].