Additional file 1: Figure S1. Test results for Proband-1 and his parents. a SOMA result showing the 3q27.1q28 deletion in the Proband-1. b Normal SOMA result from the mother. c FISH result using the BAC probe RP11-919L13 confirmed the presence of the deletion in Proband-1. d Normal FISH result from the father. Figure S2. Test results for Proband-2 and her mother. a SOMA result showing the 3q27.1q27.2 deletion in Proband-2. b FISH result using the BAC probe RP11-919L13 confirmed the presence of the deletion in Proband-2. c Normal FISH result from the mother (PPTX 714 KB)