In case #54, CMA detected a potential clinically relevant paternal microdeletion of 1q21.1 including RBM8A. Simultaneous analysis of the rWES detected a maternal pathogenic RBM8A SNV as well as the paternal 1q21.1 microdeletion, together explaining the phenotype of thrombocytopenia absent radius syndrome (TAR syndrome, OMIM #27400) observed in the fetus. The gene discussed is RBM8A; the disease is thrombocytopenia-absent radius syndrome.