Seven patients were identified with a monoallelic CNV (four patients with Diamond-Blackfan anemia and one with Potocki–Lupski syndrome, supernumerary ring chromosome 1 syndrome, and RUNX1-associated familial thrombocytopenia/AML, each), one patient (with Fanconi anemia) harbored two different compound-heterozygous CNVs, and three patients were compound-heterozygous for a CNV and a nucleotide-level mutation (one patient with dyskeratosis congenita and two patients with Thrombocytopenia absent radius syndrome, respectively). Here, RUNX1 is linked to dyskeratosis congenita.